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[A 73-year-old woman with depression, dementia, and parkinsonism].

We report a 73-year-old woman who had depression, dementia, and parkinsonism. She had postural tremor since her fortics. She was losing her weight since age 66 years. She noted difficulty in walk at age 72 (2001). She could not stand without assistance on July 2001, and she became hypobulic. On admission to our hospital on November 2001, she had dementia and revised Hasegawa dementia scale (HDS-R) was 8/30. She had mild limitation of the upward gaze, and rigidity in the neck, but not in the limbs. Postural tremor was seen. No muscle weakness was noted and tendon reflexes were normal. She was treated with levodopa/carvidopa, but she did not improve. She did not eat much. She was transferred to another hospital and she suddenly died on January 2002. The patient was discussed in a neurological CPC, and a chief discussant arrived at a conclusion that the patient had Parkinson disease with dementia. Some participants thought the diagnosis was progressive supranuclear palsy or diffuse Lewy body disease. The examination at autopsy revealed mild neuronal loss and Lewy bodies in the substantia nigra. Many Lewy bodies were observed in the cerebral cortex which corresponded to the neocortical type of DLB, and Lewy neurites were seen in the CA2 of the hippocampus by immunohistochemistry for alpha-synuclein. Spongy change was seen in the parahippocampus. Pathological diagnosis was diffuse Lewy body disease.

Aged↗

[Rapid spontaneous postpartum remission in a case of chronic inflammatory demyelinating polyradiculoneuropathy associated with pregnancy].

A 28-year-old woman developed numbness and weakness of the hands and arms when she was 8 months pregnant, and weakness worsened gradually. However, weakness started to spontaneously subside immediately after delivery and she felt almost recovered several hours later. But weakness and numbness recurred one week after delivery and she was admitted to our hospital. Neurological examination revealed moderate weakness and disturbance of the deep and cutaneous sensations in the upper and lower extremities, and marked decrease of the deep tendon reflexes. The upper extremities were more severely affected. Nerve conduction study showed marked decrease in the motor conduction velocities. Cerebrospinal fluid showed increase of protein without pleocytosis. Teased preparation of the biopsied sural nerve showed occasional internodal segments with thin myelination, indicating demyelination and remyelination. A diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy was made. Treatment with prednisolone markedly improved the weakness and hyporeflexia as well as the cerebrospinal fluid protein. Postpartum rapid remission may have been produced by rapid increase of endogenous steroid hormone in the blood by its massive excretion during delivery.

Adult↗

[An acute axonal polyneuropathy affecting intrinsic hand muscles following Campylobacter infection--a case report].

A 24-year-old carpenter had the shakes and fever on March 13, 1990. He suffered from watery diarrhea on March 14 and 15. He left muscle weakness in his thumbs and fingers when he drove nails with a hammer on March 24. The weakness reached maximum by the 3rd day of illness. He was admitted to our hospital on day 4. Neurological examination revealed symmetrical weakness localized in the intrinsic hand muscles (MRC grade 2-4). The deep tendon reflexes were preserved. Sensation was intact except for mild disturbance of superficial sense on both plantar areas. Campylobacter jejuni was cultured from his stool. A complement fixation test indicated serologically preceding C. jejuni infection. Whereas maximum motor nerve conduction velocities were not reduced and distal latencies were not prolonged, compound muscle action potential recorded in the thenar and hypothenar muscles were remarkably reduced on day 5. Needle EMG showed neuropathic changes in four limbs. Sensory nerve conduction velocities and action potentials were normal. The weakness gradually improved in association with increased compound muscle action potentials in the thenar and hypothenar muscles. His muscle symptom fully resolved 2 months after the onset of his illness. Thin-layer chromatogram with immunostaining revealed that serum IgG from this patient reacted with GM1, GD1a, GD1b, but did not react with GM2 and GT1b. Enzyme-linked immunosorbent assay showed that anti-GM1, GD1a, GD1b antibodies titer (IgG) decreased concurrently with the clinical improvement.

Acute Disease↗

Penetrating injury of cranium: a case report.

A 38 year-old male patient treated for paranoid schizophrenia for five years was found on a chain saw table at his workplace with a great parasagittal, linear active bleeding wound from left occiput to medial portion of left orbita. He was unconscious.with a Glascow coma score of 5 points as 1-3-1. Cranial radiographies revealed a bone defect from left occipital region to left medial border of orbita. CT scan showed also a great linear tissue damage involving left lateral ventricle, and an intracerebral hematoma located mainly at left frontoparietal region. An emergent left frontoparietal craniotomy was performed. Four centimetres laterally midline, there was a linear, vertical tissue wound. Hemostasis was achieved at first and intracerebral haematoma evacuated. At one week postoperatively, his eyes started to react to verbal commands. At 7 months postoperatively he was attempting to cooperate with eye movements and writing. He was right hemiplegic, aphasic and on the right side deep tendon reflexes were hyperactive. His Karnofsky score was almost 40 points. Cranial injuries due to chain saw accidents are very rare. Early surgical procedures (incl. decompression) combined with aggressive antibiotherapy seem to have a great survival benefits. However best long- term results show that this type of injuries have a great rate of mortality and morbidity despite all surgical and medical treatment procedures.

Adult↗

[Nemaline myopathy with type 2 fiber predominance; a case report].

A 4-year-old boy was admitted to our hospital because of dyspnea and muscle-weakness. His developmental milestones were delayed. His face was long with opened mouth. He spoke with nasal voice. He had proximally dominant muscle weakness and his deep tendon reflexes were absent. Laboratory examination revealed normal serum creatine kinase level and a myopathic EMG pattern. Blood gas analysis revealed metabolic acidosis with PH 7.35, PCO2 55.4 mmHg, PO2 62.4 mmHg, BE 3.0, probably from the metabolic acidosis by respiratory muscle weakness. In the biopsied left biceps brachii muscle, there were scattered fibers with nemaline bodies and abnormal fiber type distribution; type 1, 2 A, 2 B and 2 C fibers comprised 7%, 70%, 21% and 2% respectively. Small type 1 fibers and type 1 fiber predominance are the characteristic and common histochemical findings in nemaline myopathy. Accordingly, type 2 fiber predominance in the present patient is a unique, rare phenomenon. The finding might result from a preferential loss of type 1 motoneurons or muscle fiber type transformation from type 1 to type 2 fibers due to a certain abnormal neuronal influence on developing muscles.

Child, Preschool↗

[Striatal involvement on MRI in adrenomyeloneuropathy].

Adrenomyeloneuropathy (AMN), a clinical variant of child adrenoleukodystrophy (ALD), is an adult-onset progressive disorder which presents spastic paraparesis with peripheral nerve involvement and affects mainly the pyramidal tracts from the brainstem to the spinal cord. We report a case of AMN in which serial MRI showed unusual development of areas of high signal in the right striatum. The patient was in good health until the age of 12, when he began to lose his hair. At age 25 he started to have progressive gait disturbance and erectile impotence. In his first admission to our hospital at age 33, he showed diffuse baldness. He was intelligent but childish. His cranial nerves were normal. Muscle strength was weak (3-4/5) in the lower extremities. Deep tendon reflexes were hyperactive in the lower extremities while normal in the upper extremities. Babinski signs were elicited bilaterally. Pinprick and vibratory sensation was impaired in the lower legs. Proprioceptive sensations were normal. Co-ordination was intact. There were urinary incontinence and impairment of erection with preserved libido and ejaculation. Routine laboratory data including hematological studies, serum chemistry and urinalysis were all normal except for mild hyperlipidemia. Serum cortisol response to ACTH was low and serum levels of very long chain fatty acids were increased. Nerve conduction studies were abnormal and consistent with peripheral polyneuropathy. A biopsy specimen of left sural nerve revealed a mild loss of myelinated fibers with thinning of the myelin. These findings and the clinical features confirmed the diagnosis of AMN. MRI in SE2000/40 scans at age 34 disclosed areas of high signal in the bilateral internal capsules.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenoleukodystrophy↗

Congenital myopathy with uniform type 1 fibers.

Congenital myopathy with uniform type 1 fibers is a rare form of nonprogressive congenital neuromuscular disease. We report a 40 year old woman with proximal muscle weakness, waddling gait and decreased deep tendon reflexes. The serum creatine kinase level was decreased. Peripheral nerve conduction velocity as well as electrocardiogram and echocardiogram were normal. The electromyogram showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers. This is the first case of congenital myopathy with uniform type 1 fibers reported in Serbia.

Adult↗

[A case of paraneoplastic neuropathy with necrotizing arteritis localized in the peripheral nervous system].

A 59-year-old demented Japanese man who was proven to have high titer of serum alpha-fetoprotein (AFP) and carcino-embryonic antigen (CEA) was admitted to our hospital. Neurological examinations revealed moderate dementia with deterioration and loss of memory, and decreased deep tendon reflexes in all extremities. Sensory disturbances were not obvious. There were no significant changes in the usual laboratory findings including CSF, except for elevated serum AFP and CEA. Three months after admission, he died of gastric cancer and its metastases in liver and lymph nodes. Post-mortem examination in the central nervous system (CNS) revealed many senile plaques and neurofibrillary tangles throughout the cerebral cortex and hippocampus. There was marked loss of neurons in the hippocampus. All the neuropathological findings in the CNS were consistent with those in Alzheimer disease. In the peripheral nervous system, necrotizing arteritis was found throughout the length of sciatic nerve. Large myelinated fibers seemed to be preferentially degenerated with proximo-distal gradient. Teased fiber preparation revealed de/remyelination and axonal degeneration more frequently at the distal portion. Immunohistologically, the serum IgG of this patient specifically reacted to the endothelial cells of all vessels in control organs, which strongly suggested the autoimmune mechanism for the necrotizing arteritis in this patient. The pathogenetic role of this antibody for necrotizing arteritis, found selectively in the peripheral nervous system, still remained unclear. However, paraneoplastic neuropathy due to necrotizing arteritis is a distinct entity in addition to common form of paraneoplastic subacute sensory neuropathy.

Alzheimer Disease↗

Wadia type olivopontocerebellar degeneration: a case history and review of literature.

Olivocerebellar pontine degeneration of the Wadia type is characterized by progressive symmetrical cerebellar ataxia, slow eye movements, absent deep tendon reflexes, autosomal dominant inheritance, and onset between the second and fourth decades. The only available treatments are genetic counseling, social and psychological support, and physiotherapy. This article presents a case of this subtype of hereditary ataxia and a review of the literature.

Adult↗

[Chronic inflammatory demyelinating polyneuropathy followed by systemic lupus erythematosus and Sjögren syndrome: a case report].

We report a 60-year-old man with chronic inflammatory demyelinating polyneuropathy (CIDP) accompanying systemic lupus erythematosus (SLE) and Sjögren syndrome (SS). He was admitted to our hospital because of progressive weakness and dysesthesia in the distal parts of the bilateral upper and lower extremities. We diagnosed the illness as CIDP and treated him with steroids, plasma filtration and high-dose intravenous immunoglobulin therapy (IvIg). Consequently, his symptoms improved gradually and he was discharged. However, 2 years after the first admission, he experienced dyspnea on effort and chest X-ray demonstrated right pleural effusion. Consequently, he gradually developed gait disturbance, loss of taste, and severe dysesthesia in his lower limbs. Therefore, he was admitted again. On neurological examination, mild weakness was detected in all limbs distally. Deep tendon reflexes were absent. The sensation of position and vibration was diminished in the fingers and toes. He could not walk by himself and demonstrated an ataxic gait with a wide base. Examination of cranial nerves demonstrated no abnormalities, except for loss of taste. Serological examination demonstrated positive auto-antibodies including antinuclear, anti-DNA, and anti-SS-A antibodies. Urinalyses showed albuminuria and microscopic hematuria. Cerebrospinal fluid (CSF) was clear and colorless, containing 3 mononuclear cells per cubic mm, with a protein of 275 mg/dl. Magnetic resonance images (MRIs) of the brain and entire spine were normal. Neurophysiological studies demonstrated an absence of sensory nerve action potentials in the right arm and markedly slow conduction velocities, conduction block in the ulnar forearm segment and absence of F waves in all limbs. The renal biopsy revealed lupus nephritis. The lip biopsy demonstrated chronic sialoadenitis consistent with SS, altough patient did not show symptoms of arthritis or vasculitis. It is well known that mononeuritis multiplex and acute demyelinating polyneuropathy accompany SLE. However there are few reports that describe the occurrence of CIDP in patients with SLE, and the association of "CIDP-like" neuropathy in patients with SS. Our case suggests that the autoimmune disease associated with SLE and SS may induce "CIDP-like" inflammatory demyelinating polyneuropathy.

Antibodies, Antinuclear↗

[A case of Rothmann-Makai syndrome associated with mononeuropathy].

We reported the first case of Rothmann-Makai syndrome associated with mononeuropathy in a 31-year-old woman. In June 1989, she noticed several small subcutaneous nodules in the bilateral upper arms. On July 2, she woke up because of severe pain below the knee in the right leg which lasted 15 hours. On admission, subcutaneous nodules were recognized on bilateral upper arms, abdomen, gluteal regions and thighs. None of these nodules were associated with local heat or pain. Muscle weakness and dysesthesia were observed in the right foot, but deep tendon reflexes were normal. Electrophysiological studies revealed a decrease of the amplitude of action potential and of the conduction velocity in the right tibial nerve. Microscopic examination of skin biopsy showed lipolysis and diffuse lymphocyte infiltration (panniculitis) and perivascular lymphocyte infiltration was also observed. Routine laboratory data including peripheral blood, ESR, blood chemistry, and CRP were in the normal range and antinuclear antibodies and LE cells were not detected. By those findings, she was diagnosed as Rothmann-Makai syndrome associated with mononeuropathy. Steroid treatment was effective on both skin lesions and mononeuropathy. Steroid treatment was effective on both skin lesions and mononeuropathy. We concluded that this mononeuropathy may be induced by a ischemic change which may be caused by panniculitis.

Adult↗

[Clinical reasoning and decision-making in practice. A patient with loss of vision and painful legs].

A 69-year-old man was admitted to the Department of Ophthalmology with bilateral loss of vision. For a few months he had also had shooting pains in both legs and instability of gait. Neurological examination showed loss of vision bilaterally and minor sensory disturbances of the legs with diminished tendon reflexes. As extensive further examination showed no specific abnormalities, the tentative diagnosis 'arteriitis temporalis' was made. Despite treatment with corticosteroids his condition deteriorated. Only after a repeat medical history had been taken did it become clear that in the past he had had homosexual contact with a number of partners. This increased the likelihood of a sexually transmitted disease in the differential diagnosis. In the meantime the results from serological tests became known: there were strongly elevated titres for syphilis in both serum and cerebral spinal fluid. Eventually the patient was diagnosed with neurosyphilis with ocular involvement and tabes dorsalis. He recovered almost completely in a few months after treatment with doxycycline.

Aged↗

[A case of the Lambert-Eaton syndrome of non-neoplastic origin. Ten-year follow-up].

A case is presented of a 34-year-old man who developed weakness of the proximal muscles of the extremities, particularly lower, slight myalgia, and vegetative symptoms (dryness in the mouth). Those symptoms progressed within a month. On examination weakness of the muscles of the extremities was found as well as weak tendon reflexes, slight atrophy of muscles of the arms and thighs and apokamnosis. Edrophonium test was slightly positive. Electrostimulation revealed changes typical of the Lambert-Eaton syndrome: low amplitude of the compound muscle action potential on single stimulus, decreasing amplitude of the subsequent responses to 3 Hz stimulation, marked facilitation on 30 Hz stimulation. Neoplastic etiology was excluded by chest X-ray and CT, as well as by bronchoscopy, abdominal and prostatic USG, and thyroid USG and scintigraphy. Antibodies to AChR were not found in the serum. The titre of the antibodies against voltage-gated calcium channels was highly positive which was decisive in the diagnosing of the Lambert-Eaton syndrome. The patient was treated with pyridostigmine, corticosteroids, cyclophosphamide and immunoglobulins. Ten years of follow-up have fully confirmed the diagnosis of a non-neoplastic Lambert-Eaton syndrome.

Adult↗

Neonatal myotubular myopathy with respiratory distress: report of a case.

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.

Biopsy↗

[A steroid-responsive case of severe rhabdomyolysis associated with cytomegalovirus infection].

A 31-year-old man was admitted to our hospital, complaining of muscular weakness and pain in the legs one month after a common cold. On admission, neurological examinations demonstrated moderate weakness in the arms and mild weakness in the legs with decreased or diminished deep tendon reflexes, and mild dysphagia. Weakness was gradually extended to the arm, throat and respiratory muscles, requiring artificial ventilation. Laboratory examinations demonstrated increased levels of CK (upto 24,380 IU/L) and positive anti-cytomegalovirus (CMV) -IgM antibodies in the serum, and myogloburinuria. CMV was not detected in either the blood cells or muscles by PCR. There were no antibodies against viruses including Ebstein-Barr virus and HIV, in the serum. There were no autoantibodies related to collagen diseases in the serum. Systemic PET scan did not show any evidence of malignancy. Bone marrow biopsy did not show any atypical cells. Muscle MRI demonstrated mild atrophy with high intensity signals in part. Muscle biopsy demonstrated scattered necrotic and regenerated muscle fibers without inflammatory cell infiltration. The patient was therefore diagnosed as having rhabdomyolysis associated with CMV infection. After three courses of intravenously administered high dose methylprednislone over three days, muscle weakness improved gradually, and the serum CK level was normalized in two months. The patient recovered and was removed from artificial ventilation three months after the therapy. There were no sign of renal failure. Steroid therapy should be considered for the treatment of rhabdomyolysis or myopathy associated with CMV infection in order to prevent renal failure or fatal progression of the disease.

Adolescent↗

Knee osteonecrosis due to lead poisoning: case report and review of the literature.

BACKGROUND: Though rare, a relationship between toxic heavy-metal accumulation and bone necrosis exists. CASE REPORT: A 28-year-old man suffered from chronic bilateral knee pain accompanied by muscle fibrillations and night cramps. On examiniation he presented tenderness and mild quadriceps muscle atrophy, but unaffected range of movement, sensation, and tendon reflexes and no effuision. He also complained of blurred vision, lethargy, and tremor. CONCLUSIONS: On the basis of these data it appeared that these infarcts were attributable to lead poisoning. This situation has not been described in the knee region, but finrther clarification of a possible causal relationship between toxic trace element concentration and idiopathic bone necrosis appears necessary.

Adult↗

[Thyroid disease].

The incidence of pregnant women with thyroid dysfunction has been reported to be around 0.1-0.4%. Graves' disease accounts for more than half of these disorders. The main cause of thyroid disease in pregnancy and puerperium is autoimmune dysfunction. Whether there may be goitre or exophthalmus present, clinical signs as inappropriate weight gain, high systolic pressure, palpitation (greater than or equal to 110/min), emotional lability, fatigue, acceleration of suppression of the Achilles' tendon reflex should induce changes in the biochemical thyroid function tests. Parameters for the diagnosis and management for hyperthyroidism are serum levels of free T4 and TSH, while those of T3, reverse T3, and TSH are for hypothyroidism. Serum anti-microsomal antibodies and anti-thyroglobulin antibodies which have no effect on the fetus are also good markers for severity. The transplacental transfer of maternal TSH receptor antibodies consisting of stimulatory and inhibitory immunoglobulins and maternal thyroid-binding inhibiting immunoglobulins play roles in the development of transient neonatal hyper- or hypothyroidism. Fetal control is achieved by optimal maternal management. Untreated hyperthyroidism may be associated with fetal malformations. This risk may be reduced by antithyroid drug treatment of up to 150 mg/day of propylthiouracil which has less chance of placental passage and less secretion into the mother's milk than methyl-mercapto-imidazol. Maternal thyroid function should be kept in the upper limit of normal range, taking into consideration the fetal dysfunction induced by over-administration of the drug which passes through placenta. Children of hypothyroid women taking inadequate replacement therapy manifested lower IQ values compared to the progeny of euthyroid or hypothyroid women taking adequate therapy.(ABSTRACT TRUNCATED AT 250 WORDS)

Antithyroid Agents↗

Non-compaction of the right atrium and left ventricle in Ebstein's malformation.

Ebstein's malformation (EM) is characterized by dysplasia and displacement of the tricuspid inferior and septal leaflets from the true atrioventricular (AV) junction. Left ventricular hypertrabeculation/non-compaction (LVHT) including the 'atrialized' portion in EM has not been described. A 42-year-old man with a history of radiofrequency ablation of a Mahaim-like bundle suffered from chest pain. Coronary angiography was normal, but echocardiography showed a septal tricuspid leaflet inserting 3.5-cm apically beyond the AV junction, deep recesses of the atrialized interventricular septum, and a heavily trabeculated left ventricle; these were confirmed by cardiac magnetic resonance imaging. Neurologically, hypoacusis, positive pyramidal signs, postural tremor and brisk tendon reflexes were identified.

Adult↗