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PubMed2005

[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].

We report a 51-year-old man genetically diagnosed as Charcot-Marie-Tooth disease type 4F. The patient was the first child of healthy, consanguineous parents. He had two sisters and one of them showed similar but milder symptoms. He had gait disturbance since childhood. Then he noticed muscle weakness of his hands at the age of early forties, and more difficulties in gait at the age of late forties. On examination at age 51, he showed absence of all deep tendon reflexes, weakness of the hand and distal leg muscles, pes cavus and decreased sensitivity to touch and vibration in the lower extremities. Electrophysiological studies of the median nerve showed delayed motor nerve conduction velocity and undetectable sensory nerve action potentials. The histology of his sural nerve revealed moderate loss of large myelinated fibers and the diameters of residual fibers shifted to small shown as size-frequency histogram. Many fibers are thinly myelinated and some of the Schwann cells looked as wrapping around the myelinate fibers with their processes. On gene analyses, we identified an Arg 1070 Stop homozygous mutation in the Periaxin, known to be a causative gene for CMT type 4F. Based on these observations, we emphasized that broad genetic analyses are necessary for diagnosis of CMT disease, including so far unidentified mutations among the Japanese populations.

Charcot-Marie-Tooth Disease↗
PubMed2005

Case report: multiple endocrine neoplasia type 2B misdiagnosed as familial dysautonomia.

BACKGROUND: Familial dysautonomia (FD) is a rare autosomal recessive disorder of the peripheral nervous system, affecting exclusively Jewish children of Ashkenazi extraction. The typical clinical features consist of somatic abnormalities: failure to thrive, characteristic facies, excessive sweating, labile blood pressure, recurrent aspiration pneumonias, lack of tears, and diminished and later absent deep tendon reflexes with generalized reduction of pain sensation. Oro-dental features include a lack of tongue fungiform papillae, impairment of taste, oro-dental self-mutilation, dental crowding, excessive plaque and calculus accumulation, salivary over production and low caries experience. CASE REPORT: A child with multiple endocrine neoplasia type 2B (MEN 2B) received, at the age of 11 months, an incorrect diagnosis of familial dysautonomia (FD). At the age of 6 years, a paediatric dentist experienced with FD noticed a normal number and shape of tongue fungiform papillae, while expecting to find a smooth tongue lacking those structures. The presence of numerous submucosal neuromata initiated a meticulous neurological and endocrine work-up, which established the diagnosis of MEN 2B. This led to an early detection and appropriate treatment of asymptomatic medullary thyroid carcinoma (MTC).

Adolescent↗
PubMed2005

[Clinical and neurophysiological features of 700 patients with diabetic peripheral neuropathy].

OBJECTIVE: To study the clinical and electrophysiological features of diabetic peripheral neuropathy in 700 patients to elucidate the relationships between them and evaluate the value of electromyography in the diagnosis of diabetic peripheral neuropathy. METHODS: Standard sensory and motor nerve conduction studies were performed in the 700 patients, sensory nerve conduction velocity (SCV), amplitude of sensory nerve action potential (SNAP), distal motor latency (DML) and amplitude of compound muscle action potential (CMAP) of median nerve, ulnar nerve, posterior tibial nerve and common peroneal nerve were studied simultaneously. Needle electromyogram (EMG) test was performed in 239 patients. RESULTS: (1) The most common symptoms of peripheral neuropathy were numbness and pain in limbs, while impaired or lost tendon reflexes were the most common abnormal signs in lower limbs. (2) The abnormal rate of nerve conduction studies was 72.4% in the 700 patients. Slow SCV, prolonged DML and decreased amplitude of SNAP and CMAP were detected. (3) More severe abnormal nerve conduction was found in lower limbs than in upper limbs. The abnormal degree was more severe in sensory nerve than in motor nerve and severity was more in amplitude than in conduction velocity (P < 0.05). (4) Abnormal motor and/or sensory nerve conduction was detected in 67.3% of the patients with clinical manifestations of neuropathy and 5.1% patients without signs or symptoms of neuropathy, while motor or sensory nerve conduction was normal in 27.6% patients with manifestations of neuropathy. Needle EMG showed neurogenic lesion in 4.6% of the patients with normal motor and sensory nerve conduction. (5) polyneuropathy is the most common type of diabetic neuropathy and carpal tunnel syndrome the next. CONCLUSIONS: The most common clinical and electrophysiological manifestation of diabetic neuropathy is sensory disturbance, which is more severe in lower limbs. The electrophysiological changes are not always accordant with clinical manifestations. Subclinical diabetic peripheral neuropathy can be detected by electrophysiological tests, which are useful to verify the range and extent of the nerve lesion involved in the early stage of diabetic peripheral neuropathy. Needle EMG is not recommended for screening diabetic neuropathy.

Adolescent↗
PubMed2005

Involuntary jerking of lower half of the body (spinal myoclonus).

A 55 years old, hypertensive, diabetic lady presented with sudden onset jerky movement of lower trunk and legs. It was present both in awake and sleep and got aggravated by mental stress as well as sensory stimulation. Examination revealed rhythmic jerks affecting muscles of lower abdomen and legs. The lower limbs had normal muscle bulk and power, increased tone, exaggerated deep tendon reflexes, bilateral flexor plantar response with normal sensory autonomic and cerebellar function. Investigations including CSF study, MRI of dorsal spine and NCV were normal. A combination therapy with tizanidine, baclofen and clonazepam induced gradual improvement within 6 weeks.

Baclofen↗
PubMed2005

The INFIR Cohort Study: investigating prediction, detection and pathogenesis of neuropathy and reactions in leprosy. Methods and baseline results of a cohort of multibacillary leprosy patients in north India.

The aim of this study was to find predictors of neuropathy and reactions, determine the most sensitive methods for detecting peripheral neuropathy, study the pathogenesis of neuropathy and reactions and create a bank of specimen, backed up by detailed clinical documentation. A multi-centre cohort study of 303 multibacillary leprosy patients in Northern India was followed for 2 years. All newly registered MB patients requiring a full course of MDT, who were smear positive and/or had six or more skin lesions and/or had two or more nerve trunks involved, were eligible. A detailed history was taken and physical and neurological examinations were performed. Nerve function was assessed at each visit with nerve conduction testing, warm and cold detection thresholds, vibrometry, dynamometry, monofilaments and voluntary muscle testing. Because the latter two are widely used in leprosy clinics, they were used as 'gold standard' for sensory and motor impairment. Other outcome events were type 1 and 2 reactions and neuritis. All subjects had a skin biopsy at registration, repeated at the time of an outcome event, along with a nerve biopsy. These were examined using a variety of immunohistological techniques. Blood sampling for serological testing was done at every 4-weekly clinic visit. At diagnosis, 115 patients had an outcome event of recent onset. Many people had skin lesions overlying a major nerve trunk, which were shown to be significantly associated with an increased of sensory or motor impairment. The most important adjusted odds ratios for motor impairment were, facial 4.5 (1.3-16) and ulnar 3.5 (1.0-8.5); for sensory impairment they were, ulnar 2.9 (1.3-6.5), median 3.6 (1.1-12) and posterior tibial 4.0 (1.8-8.7). Nerve enlargement was found in 94% of patients, while only 24% and 3% had paraesthesia and nerve tenderness on palpation, respectively. These increased the risk of reactions only marginally. Seven subjects had abnormal tendon reflexes and seven abnormal joint position sense. In all but one case, these impairments were accompanied by abnormalities in two or more other nerve function tests and thus seemed to indicate more severe neuropathy. At diagnosis, 38% of a cohort of newly diagnosed MB leprosy patients had recent or new reactions or nerve damage at the time of intake into the study. The main risk factor for neuropathy found in this baseline analysis was the presence of skin lesions overlying nerve trunks. They increased the risk of sensory or motor impairment in the concerned nerve by 3-4 times. For some nerves, reactional signs in the lesions further increased this risk to 6-8 times the risk of those without such lesions. Patients with skin lesions overlying peripheral nerve trunks should be carefully monitored for development of sensory or motor impairment.

Adolescent↗
PubMed1992

Congenital lumbosacral lipomas presenting as a form of occult spinal dysraphism. A report of 9 surgically treated cases.

Nine cases of congenital lumbosacral lipoma have been diagnosed and treated surgically at the Hacettepe University School of Medicine, Department of Neurosurgery during the last 16 years. Five patients were male and four female with ages ranging from 18 months to 30 years. The most frequent complaints were mass in the back (in five cases), motor weakness in the lower extremities (in five), urinary incontinence (in five), and lumbosacral hypertrichosis (in five). On neurological examination, four patients had deep tendon reflex changes, five had motor changes and four were normal. There was significant improvement in seven cases. Two had no improvement. In this report, we review nine patients retrospectively, and discuss the surgical intervention and the results achieved.

Adolescent↗
PubMed2005

[A case of brachial amyotrophic diplegia accompanied with Sjögren's syndrome presenting good response to immunotherapies in the early course of the disease].

A 74-year-old woman suffered from progressive muscle atrophy and weakness of her arms since she was seventy two years old. Before referral to our department, she was diagnosed as having cervical spondylotic myeloradiculopathy and received spinal fusion. Though spinal decompression was successful, muscle weakness of her upper limbs were progressive even after the surgery. On admission, neurological examinations revealed marked atrophy and weakness of her bilateral upper limbs with absent deep tendon reflexes showing man-in-the-barrel syndrome. Her lower extremities had normal muscle strength, but fasciculations were seen in her all four limbs. Electrophysiologically, motor nerve conduction velocity was almost normal but the amplitude was remarkably decreased, conduction block was not detected, and electromyography showed neurogenic patterns on her all extremities. Spinal progressive musclar atrophy (SPMA) accompanied with Sjögren's syndrome was the likely diagnosis. Because 50 kDa anti-neuronal antibodies were found in her serum, we assumed that anterior horn cells were impaired by an autoimmune mechanism. Thus we treated her with corticosteroid pulse therapy, plasma exchange (PE) and intravenous immunoglobulin infusion therapy (IVIG). Although steroid pulse therapy only had a minimal effect, PE and IVIG promoted a remarkable improvement on her weakness, and the effect lasted for about three months. This is the first case of SPMA with Sjögren's syndrome which showed good response to PE and IVIG in the early course of the disease. We considered that some SPMA-like motor neuron syndrome accompanied with autoimmune features may require immunomodulating therapies.

Aged↗
PubMed2005

[A case of Brown-Vialetto-van Laere (BVVL) syndrome in Japan].

Here we report a sixty-year-old woman of Brown-Vialetto-van Laere (BVVL) syndrome in Japan. She had sensorineural deafness, weakness and atrophy of her extremities from 15 years of age. Her neurological symptoms slowly progressed. She first visited our hospital in 1993 when she was 49 years old. At that time, she had distal muscle weakness and atrophy of the four extremities and bulbar palsy. Deep tendon reflexes were absent and the plantar toe reflex was flexor. EMG revealed neurogenic changes and the nerve conduction studied were normal. The vital capacity was marked decreased. On August 10, 2003, she was admitted to our hospital because of CO2 narcosis. She had III, VII, X, XI, XII cranial nerve palsy, distal muscle weakness and atrophy of the four extremities. From her neurological symptoms and signs, we made a diagnosis of BVVL syndrome. MRI revealed no high signal in pyramidal tract by FLAIR image. ABR showed no response, and VEP demonstrated delay of the P100. She was intubated, and was attached to a respirator to improve her CO2 narcosis. After treatment she improved and did not need to be assisted by a respirator during daytime. During night time, she had apnea, and her blood gas showed the retention of CO2, and she still required the respiratory assistance during her sleep. This is the first report of BVVL syndrome in Japanese literature.

Bulbar Palsy, Progressive↗
PubMed2005

[MRI and SPECT findings in a case of metronidazole-induced reversible acute cerebellar ataxia].

A 69-year-old man was referred to our department because of acute onset nausea, vomiting, dysphagia, dysarthria and gait disturbance. He had a 50-day-history of amebic dysentery and had been treated with 1,500 mg metronidazole per day. Neurological examination revealed dysphagia, ataxic speech, ataxia of the left extremities and the trunk, and hyperactive deep tendon reflexes in all extremities. Sensory impairment of all modalities was apparent in a glove and stocking pattern, with mild paresthesia. Brain MRI showed T2 high signal lesions in the bilateral cerebellar dentate nuclei, more markedly on the left. On brain SPECT, obvious low blood perfusion was observed in the left cerebellar hemisphere. These findings well explained the ataxia of the left limbs. One month after discontinuing metronidazole, the cerebellar ataxia, dysphagia and MRI abnormalities completely cleared. Therefore, central nervous system damage induced by metronidazole is considered reversible. In spite of the presence of the MRI lesion in the right dentate nucleus, the patient had no ataxia of the right extremities and there was no hypoperfusion in the right cerebellar hemisphere. Thus, metronidazole does not appear to have a direct neurotoxic effect on the central nervous system. On the other hand, nerve conduction studies showed axonal polyneuropathy, which was not improved one month after cessation of the drug; thus metronidazole seems to exert more damage on peripheral nerves.

Acute Disease↗
PubMed2005

[The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family].

OBJECTIVE: To understand clinic and genetic characteristics of Chinese AR-JP. METHODS: The clinical dates of 1 Chinese AR-JP family was collected and analysed. Genomic DNA was extracted by standard techniques from venous blood leukocytes of members in three women of the family, polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) analysis and DNA sequencing were used to detect mutation of parkin gene. RESULTS: Onset age of 2 Chinese AR-JP patients is young, periods of disease is long, clinical manifestation include: resting tremor, rigidity, bradykinesias, disability, a good response to levodopa, but early levodopa induced symptom fluctuation; but no hyperactive tendon reflexes, sleep benefit, and foot dystonia. Parkin mutation analysis in 2 patients of the family discovered abnormal SSCP electrophoresis band, by DNA examination, conformed 2 base deletion mutation (exon 2 202-203delAG). CONCLUSIONS: Clinical features of Chinese AR-JP patients are different with Japanese AR-JP, similar with late-onset Parkinson disease; our study detected a parkin mutation (exon 2 202-203delAG), conform mutation of parkin gene is a cause of AR-JP in Chinese.

Adult↗
PubMed2005

[A case of progressive multifocal leukoencephalopathy presenting white matter MRI lesions extending over the cerebral cortex and a marked decrease in cerebral blood flow on SPECT, and associated with HTLV-I infection].

We report a 47-year-old woman with progressive multifocal leukoencephalopathy (PML). She was a carrier of HTLV-I virus, and developed subacute right hemiparesis and marked motor aphasia. She had a malignant lymphoma in the left neck and basal cell carcinoma in the right inguinal region. Three months after the onset, she became unable to walk because of the right leg weakness or to speak because of motor aphasia. Magnetic resonance imaging (MRI) revealed multifocal T2-high lesions in the white matter of the left frontal lobe, and a brain biopsy revealed demyelinating pathology. A biopsy of the left parotid gland revealed a diffuse pleomorphic type large B cell lymphoma. Although anti-HTLV-I antibody was positive in the serum and cerebrospinal fluid (CSF), no adult T-cell leukemia (ATL) cells were found in the blood or CSF. The patient was then admitted to our hospital. Neurological examinations revealed severe motor aphasia, mild sensory aphasia/cognitive impairment, right hemiplegia, mild right hemihypesthesia, limb-kinetic apraxia in the left hand, idiomotor apraxia, agraphia, perseveration, marked spasticity and brisk tendon reflex in four extremities, and positive bilateral pathological reflexes. MRI showed multifocal T2-high lesions mainly in the cerebral white matter, predominantly in the left hemisphere, and partly in the cerebral cortex. No gadolinium enhancement was found. In addition, 99mTcECD-SPECT showed a broad decrease in cerebral blood flow (CBF) in the cortex. Anti-HTLV-I antibody was positive but anti-HIV antibody was negative in serum. ATL cells were found in 1-3% of the peripheral white blood cells after admission. CSF examination revealed that the cell count (1/microl), protein level (24 mg/dl), and IgG index (0.4) were all normal. However, the myelin basic protein level (321 pg/ml; normal < 102) was increased, JC virus DNA was detected by PCR, and anti-HTLV-I antibody (x 8) was detected in CSF. The regulatory region of the JC virus DNA in the CSF was partly deleted; immunostaining with anti-JC virus protein antibodies revealed the existence of JC virus in biopsied brain specimens, and these findings were consistent with PML. Her symptoms such as motor aphasia, cognitive dysfunction and left hemiparesis were subacutely progressive, and she developed akinetic mutism two weeks after admission. Since the efficacy of cytosine arabinoside for PML has been reported, she was administered 80 mg/day of the drug for five days. After treatment, her communication function was mildly improved but the efficacy was transient. Since it has been reported that HTLV-I, as well as HIV, activates the JC virus promoter and its proliferation, the latent infection of HTLV-I in the central nervous system (CNS) in this case might have stimulated the JC virus proliferation, promoting lesion extension over the cerebral cortex. There have been only a few reports of broad decreases in CBF by SPECT in PML patients. Further MRI and SPECT studies on PML patients are therefore necessary to evaluate the significance of HTLV-I in promoting the JC virus infiltration into the CNS.

Aphasia, Broca↗
PubMedDate not supplied

Cobalamine deficiency associated with neuropathy and oral mucosal melanosis in untreated gluten-sensitive enteropathy.

A 32-year-old woman was admitted with complaints of difficulty in walking and hypoaesthesia and tingling in her legs. She had short stature and brown-black hyperpigmentation, cheliosis, dental irregularities and scars in the axillary regions. Neurological examination revealed mild, symmetric, predominantly distal weakness of the legs; deep tendon reflexes were depressed. There was glove-and-stocking decrease in pinprick and temperature perception but proprioception and light touch were normal. Investigations established a diagnosis of celiac disease; her neurological features improved on gluten-free diet, but oral pigmentation persisted.

Adult↗
PubMed2005

[A case of Gitelman's syndrome presenting with severe hypocalcaemia and hypokalemic periodic paralysis].

HISTORY AND CLINICAL FINDINGS: A 63-year-old woman was admitted with fatigue, general malaise, paraesthesiae, muscle cramping and weakness of the limbs. Since the age of 13, she had suffered from a transient lower extremities paralysis 3 times. Past history was unremarkable. There was no family history of disease. In addition, she denied any form of self-medication, surreptitious diuretic and laxative abuse, persistent vomiting and diarrhea. The blood pressure was 120/70 mmHg, BMI = 23.0 kg/m2, WHR = 0.84. A little anxious. The results of physical examinations were unnoticeable. The cranial-nerve functions were intact. Manual muscle tests revealed her extremities in normal condition. Sensation was normal in all modalities. The deep tendon reflexes were present but decreased mildly. INVESTIGATIONS: Laboratory tests showed moderate to severe hypokalemia with a serum potassium concentration of 2.77 to 3.17 mmol/L, hypomagnesemia (0.31-0.35 mmol/L), hypocalcaemia (1.79-1.99 mmol/L), hypocalciuria (0.12-1.10 mmol/24 h), and metabolic alkalosis. The patient had elevated plasma renin activity and normoaldosteronism; her parathyroid hormone level was normal. Urinary calcium to creatinine ratio was (5.17-23.57) x 10(-3) mg/mg Cr. The renal clearance studies in this patient using furosemide or hydrochlorothiazide disclosed that urine volume and chloride clearance (CCL) were increased after furosemide administration, but there was no obvious change after the administration of hydrochlorothiazide. Furthermore, the distal fractional chloride reabsorption [CH2O/(CH2O+CCI)] was dramatically decreased by furosemide administration, whereas thiazide had little effect on it. These findings pointed to the presence of a non-functional thiazide-sensitive sodium/chloride cotransporter in the distal convoluted tubule, so the diagnosis of Gitelman's syndrome (GS) was made. TREATMENT: The patient was treated with indomethacin 50 mg, tid; after 3 days, the potassium increased, but calcium and magnesium serum levels failed to improve. So triamterene 50 mg, tid was also administrated. After 4 days, the serum levels of potassium, calcium were normalized, and the serum levels of magnesium increased from 0.35 mmol/L to 0.52 mmol/L; weakness and fatigue improved markedly, the clinical symptoms disappeared. The 18-month-follow-up study found the magnesium serum level normal. CONCLUSION: GS may be present with severe hypocalcaemia and hypokalemic periodic paralysis; the renal clearance studies by diuretic administration may be of help in diagnosing Gitelman's syndrome, and the combined use of indomethacin with triamterene has good therapeutic effect.

Alkalosis↗
PubMed1992

[A case of portal-systemic encephalopathy presenting characteristic MR images in globus pallidus, hypothalamus, corpus callosum, pontine base, and middle cerebellar peduncle].

A 53-year-old woman developed symptoms of slow speech, mild dementia, increased deep tendon reflex, ataxic gait, flapping tremor, and dystonic posture during two years. She had liver cirrhosis and hyperammonemia, which suggested a diagnosis of portal-systemic encephalopathy. MR T1-weighted images showed increased signal intensity in globus pallidus, internal capsule, substantia innominata, and a part of hypothalamus. T2-weighted images revealed abnormal findings as follows: high intense area in middle cerebellar peduncle, and low signal intensity of corpus callosum and pontine base. This is the first report about MRI abnormalities in substantia innominata, corpus callosum, and pontine base in a patient with portal-systemic encephalopathy.

Brain↗
PubMed2005

[A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia].

We report a 60-year-old man with a 6-year history of tremor in his hands. He noted the onset of short of breath and gait disturbance in 1994; both of these symptoms were slowly progressive. Then recently he developed fever two months prior to the present admission. He was admitted to the rheumatology department of our hospital and neurological consultation was asked on December 13, 2000. On neurologic examination, he showed Gottron sign and fine crackle in both lungs. Pertinent neurological findings were bilateral dysmetria in finger-to-nose and heel-to-knee tests and a broad-based gait. In addition, he showed intention tremor in upper extremities more on the left. Romberg sign was positive. Deep tendon reflexes were decreased. Vibratory sensation was reduced at the wrists. The patient's hemoglobin was 11.1 g/dl, with a mean corpuscular volume of 92.0 fl. Vitamin B12 level was 190 (reference range, >230 pg/ml). Serum lactic acid, pyruvic acid and ceruloplasmin were slightly elevated. Chest X-ray showed interstitial pneumonia. Muscle biopsy showed grouping of small angular fiber. Brain MRI showed diffuse atrophy of the cerebral cortex and the cerebellum hemisphere. Thalamotomy did not improve his tremor. He was admitted again in November 2001. General worsening of his neurological findings was observed. IL2-receptor was markedly elevated. Serum anti-Hu, Yo and Ri antibodies were negative. An anaplastic carcinoma was found in his jejunum. He died from respiratory failure in February 2002. He was discussed in a neurological CPC and the chief discussant arrived at a conclusion that the patient had paraneoplastic syndrome. Other diagnosis entertained included MERRF, GSS, Ramsay Hunt syndrome, subacute combined degeneration, spinocerebellar degeneration. Majority of the participants thought that paraneoplastic syndrome was most likely. Post-mortem examination revealed poorly differentiated carcinoma in the small intestine. Myeline pallor was noted in the posterior and the lateral columns in the thoracic spine. Neuronal cell loss was observed in the Purkinje cell and granular cell layer in the cerebellum. Sural nerve demonstrated loss of myelinated fibers and grouping of small fibers. Neuropathological findings were consistent with Friedreich ataxia; nevertheless, no mutation was reported in frataxin in Japan. The neuropathologist concluded that neuropathological diagnosis was a spinocerebellar ataxia with neuropathological similarities to Friedreich ataxia.

Aged↗
PubMed2005

[Bickerstaff's encephalitis].

INTRODUCTION: The clinical and radiological findings in a case of Bickerstaff encephalitis are described and the relationship with Miller Fisher and Guillain Barré syndromes are discussed. CLINICAL CASE: Subsequently to a respiratory infection,a 44-year-old male developed external ophthalmoplegia and cerebellar-like ataxia; his condition deteriorated and he suffered consciousness disturbances and absent tendon reflexes were noted. An MRI scan was performed showing a lesion affecting the brainstem. The cerebrospinal fluid (CSF) revealed albuminocytologic dissociation and the presence of oligoclonal bands. He received high doses of intravenous immunoglobulins and five months later, he had completely recovered. A follow up MRI scan demonstrated complete resolution of the lesion. CONCLUSIONS: The initial condition was diagnosed as Bickerstaff brainstem encephalitis (BBE) with overlapping peripheral nervous system semiology. The presence during the acute phase of oligoclonal bands in CSF, which decreased with the clinical improvement, supports the hypothesis than an autoimmune mechanism may function in its pathogenesis. Our case suggests that intravenous immunoglobulins therapy should be considered in patients with BBE.

Adult↗
PubMed2004

[Clinical study of 83 cases with spinal muscular atrophy in children].

OBJECTIVE: Spinal muscular atrophy (SMA) is a common autosomal recessive disorder and represents one of the most common genetic causes of death in childhood. The last 10 years have seen major advances in the field of SMA, but no curative treatment is available so far. This study aimed to analyze the clinical characteristics of SMA, improve the clinical diagnosis of SMA, and explore the importance of gene diagnosis and prenatal diagnosis of SMA by gene deletion analysis. METHODS: Totally 83 cases with SMA including 55 males and 28 females were enrolled in this study. The age was between 1 day and 14 years (average 23.7 months). The clinical characteristics and changes of electromyography were assessed in all cases. The muscular biopsy was performed in 2 of 83 cases. The deletion of survival of motor neuron gene (SMN) was detected by PCR and restriction endonuclease spectrum analysis in 13 of 83 cases. RESULTS: The 83 cases were subdivided into three clinical groups based on age of onset of symptom, age at death and achievement of certain motor milestone, 60 cases with type I, 19 cases with type II and 4 cases with type III. They were all characterized by symmetric muscle weakness (more proximal than distal) associated with atrophy, absence or marked decrease of deep tendon reflexes. Electromyographic studies showed a pattern of denervation with neither sensory involvement nor marked decrease of motor nerve conduction velocities in all cases. Muscle biopsy provided evidence of skeletal muscle denervation with groups of atrophy in 2 cases. The SMN detection revealed deletion of exon 7 and exon 8 in 11 of 13 cases, only lacking exon 7 in 1 of 13 cases and lacking exon 8 in 1 of 13 cases. CONCLUSION: SMA is characterized by degeneration of lower motor neuron associated with muscle paralysis and atrophy. The definite diagnosis of SMA will rely on the typical clinical characteristics, changes of electromyogram and muscle biopsy and gene deletion analysis. Gene diagnosis of SMA can provide a basis for prenatal diagnosis which is of great importance in preventing SMA.

Adolescent↗
PubMed2005

Is magnesium sulfate for prevention or only therapeutic in preeclampsia?

Intravenously administered magnesium sulfate is effective in reducing the incidence of eclampsia in women with severe preeclampsia. However, the routine use of magnesium sulfate in all cases of preeclampsia is not justified as the incidence of eclampsia is likely to be lower in milder cases than in those with severe disease, and also in view of the adverse effects of magnesium sulfate. Magnesium sulfate should be considered for women with preeclampsia for whom there is concern about the risk of eclampsia, such as hyperreflexia, frontal headache, blurred vision, and epigastric tenderness. As it is an inexpensive drug, it is especially suitable for use in low income countries. Intravenous administration is preferable, where there are appropriate resources, as side effects and injection site problems seem lower. Duration of treatment should not normally exceed 24 hours, and if the intravenous route is used for maintenance therapy the dose should not exceed 1 g/hour Serum monitoring is not necessary. Clinical monitoring of respiration, tendon reflexes and urine out put are enough for monitoring of magnesium toxicity. Administration and clinical monitoring of magnesium sulfate can be done by medical, a midwife or nursing staff provided they are appropriately trained. However, the use of magnesium sulfate should not be misconstrued as a license for reduced surveillance of preeclamptic women. Progression from mild to severe disease and development of serious maternal complications during antepartum, intrapartum and postpartum cannot be predicted without close maternal surveillance. Therefore, continued close antepartum, intrapartum, and postpartum surveillance is crucial for optimal maternal and perinatal outcomes.

Female↗