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PubMed1996

[A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis].

We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.

Creatine Kinase↗
PubMed1995

[Epidemiology of syringomyelia in Japan--the nationwide survey].

The nationwide epidemiological survey of syringomyelia was carried out in Japan by sending inquiries to neurologists, child neurologists, neurosurgeons and orthopedic surgeons for the period of 1991 and 1992. A total of 1,243 cases of syringomyelia were ascertained. Among them, 622 were men and 619 women, and the average age of onset was 28 years old. The classification by Barnett et al was used, presenting syringomyelia with Chiari malformation in 684 cases (51.2%), dysraphism in 47 (3.7%), post traumatic syringomyelia in 139 (11%), post-spinal arachnoiditis in 76 (6%), spinal cord tumor in 132 (10.5%) and others in 204. Its predominant clinical course was slowly progressive, but 202 cases (17.9%) showed rather stable course including spontaneous resolution in 29 cases. The main initial symptoms were numbness in 522 cases (42%), motor disturbance in 504 (40.5%), and pain in 296 (23.8%). Neurologic signs noted in the abnormality of deep tendon reflexes in 836 cases (67.3%), motor disturbance in 763 (60.4%) and positive pathological reflexes in 383 (30.1%). Sensory disturbance was found in 942 cases (75.8%) and the dissociated type were 559 out of them (59.3%). It is noteworthy that 982 out of 1,243 were documented by MRI and surgical operations such as foramen magnum decompression, syringo-subarachnoid shunt and others were performed in 829 cases. Syringobulbia was confirmed on MRI in 101 cases of syringomyelia in which spinal cord tumors were most frequently associated.

Adolescent↗
PubMed1996

[Late-onset adrenomyeloneuropathy perplexed with spondylosis. A case report].

We reported a 60-year-old man with late-onset adrenomyeloneuropathy (AMN). He had been well until 10 years before entry, when he noticed numbness in the legs with gait difficulty; symptoms worsened gradually with additional urinary disturbance. Transient improvement occurred after cervical and lumbar spinal operation under the diagnosis of spinal spondylosis, while his spastic gait got worse. Neurological examination on admission disclosed bilateral horizontal nystagmus, ataxic and spastic gait, increased patellar tendon reflexes, Chaddock sign, and impaired deep sense in the lower limbs with positive Romberg sign. Abnormal laboratory data included hypofunction of the adrenal cortex and elevated saturated very long chain fatty acids (VLCFAs). Serum cholestanol level was normal and anti-HTLV-1 antibody was negative. T2-weighted MRI showed a high signal intensity lesion in the occipital white matter along the optic radiation. Electrophysiological tests suggested a brainstem lesion on auditory brainstem response, thoracic or lumbar lesion on somatosensory evoked potential, and peripheral neuropathy on nerve conduction study. In the present case, it should be emphasized that the determination of serum VLCFAs unveiled the diagnosis of AMN in old patients with spinal spondylosis or without apparent clinical symptoms of adrenocortical insufficiency.

Adrenoleukodystrophy↗
PubMed1996

[Clinical study of intraspinal neoplasms in children].

The authors report a series of 10 children under 15 years of age with primary intraspinal neoplasm who underwent surgical resection from 1981 to 1994. The tumors consisted of 4 intramedullary tumors (myxopapillary ependymoma, pilocytic astrocytoma, subpial liporna, cavernous angioma), 2 intradural extramedullary tumors (2 neurinomas), and 4 extradural tumors (ganglioneuroma, chordoma, osteochondroma, rhabdomyosarcoma). The initial symptoms in these patients were gait disturbance (50%), weakness of lower extremities (50%), pain (40%), weakness of upper extremities (10%), and tetraparesis (10%). The neurological findings on admission in these patients revealed motor paresis (90%), sensory disturbance (60%), abnormality of deep tendon reflex (60%), pathological reflex (30%), neurogenic bladder (30%), and Lasegue's sign (10%). All patients were treated surgically; laminectoy was performed in 8 patients, laminoplasty in one patient, and transoral approach in one patient. Five patients (50%) underwent a grossly total resection, 3 (30%) had a subtotal resection, and 2 (20%) had a partial resection. Mean follow-up period was 5.6 years. One (10%) patient died due to recurrence and dissemination of the tumor at eight months after surgery in a case of rhabdomyosarcoma. 9 (90%) have had no recurrent tumor and have improved neurologically. In 4 patients (40%) spinal deformity developed, and 2 patients required operative treatment for the spinal deformity. We emphasized the advantage of laminoplasty to prevent postoperative spinal deformity in children.

Adolescent↗
PubMed1996

[Myelopathy caused by hypertrophy of the posterior longitudinal ligament of the cervical spine in a patient with long-term hemodialysis].

A 48-year-old female was admitted to our hospital because of progressive gait deterioration over a period of 4 months. She had been treated by hemodialysis for 14 years after bilateral nephrectomy. She originally suffered achondroplasia. Otherwise she was a healthy woman. Neurological examination showed weakness and hypesthesia below C5, accelerated deep tendon reflexes and inability in walking. T1 weighted magnetic resonance imaging revealed severe cord compression from C4 to C6 due to an epidural isointensity mass located in the ventral surface of the dura. This mass was enhanced by a contrast medium. Anterior decompression followed by an autogenous vertebral bone graft at C4/5 and C5/6 was performed. The posterior longitudinal ligament was remarkably thickened resulting in severe cord compression. Histologically this thick ligament contained amyloid deposition both in the superficial and deep layers. Ossification was not noticed in the ligament. Diagnosis of hypertrophy of the posterior longitudinal ligament (HPLL) was made. HPLL is known to be frequently associated with herniated intervertebral discs or segmental ossification of the posterior longitudinal ligament (OPLL). Myelopathy in this patient with long-term hemodialysis was aggravated by HPLL without ossification due to imbalance of systemic metabolism such as amyloidosis. The authors report a unique case of HPLL caused by amyloidosis as one of the complications of chronic hemodialysis with special emphasis on its pathophysiology and management.

Amyloidosis↗
PubMed1996

[MRI findings of hyperostosis frontalis interna--a case of Morgagni syndrome].

We report a patient with Morgagni syndrome. The main aim of this paper is to discuss hyperostosis frontalis interna (HFI) and coexisting clinical feature and to describe the pathomorphology in detail on the basis of MRI images of the skull. The patient, a woman, was 82 years old when she first came to our hospital. She had a 20-year history of hypertension and chronic headache, and had been excessively obese till three years before. On admission she presented with a broad spectrum of clinical symptoms and signs including insomnia, disorientation to place, loss of memory, dementia, night delirium, reduced deep tendon reflexes in the lower extremities, urinary incontinence and upward gaze palsy. Because of a fair recovery within several days, it was suspected that so-called "treatable dementia" played a considerable role in the above-mentioned clinical state. Laboratory testing data, including hormone levels, were all within normal limits. EEG examinations showed slowed, diffuse, and poorly developed alpha-waves with no paroxysms. Cranial CT in horizontal sections disclosed a deformed frontal bone with convexlens-shaped thickening bilaterally and diffuse high density on both sides. MRI images revealed more detailed structures: the outer plate, diploe and inner plate of the skull, and abnormal ossifications. Based on these findings we diagnosed her illness as Morgagni syndrome. Recent reports, though few in number, have tended to focus on the EEG findings, hormones and psychiatric states in this syndrome, and descriptions of the HFI itself seem to be rare. The true cause of this syndrome is not yet known, so this rare presentation of MRI images of HFI is thought to be important in explaining this peculiar phenomenon in the skull.

Aged↗
PubMed1996

[A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness].

We report a right-handed 34-year-old woman with diffuse muscle atrophy. The patient was a full-term infant of uneventful delivery, however, motor milestones were delayed in that neck control was obtained at 10 months of the age and she started to walk unassisted at 2 years of the age. Mental development was normal. She was unable to run with her mates at her kindergarten and she required a handrail when she walk up the stairs. She could not close her mouth completely at the primary school. She was unable to use a straw as a middle school pupil. Recently, she noted difficulty in raising her head from the supine position, and has become unable to walk a long distance. She was admitted to our hospital in September 17, 1994 when she was 34-year-old. On admission, general physical examination revealed that she looked slender weighing 38 kg with 149.5 cm height. She showed a high arched palate, slight scoliosis, and pes equinus. Otherwise general physical examination was unremarkable. Upon neurologic examination, she was alert and well oriented. Cranial nerves were unremarkable except for bilateral facial atrophy and moderate weakness. Her voice was of nasal quality, and swallowing was slightly difficult. No atrophy was noted in the sternocleidomastoid muscle. She showed waddling gait and positive Gowers' sign. Diffuse muscle atrophy was noted and mild to moderate weakness was presented more in the proximal part in both upper and lower extremities, however, deltoid muscles retained normal power. No ataxia was noted. All the deep tendon reflexes were lost. Sensation was intact. Routine laboratory examination was unremarkable. Serum CK was 56 IU/l. Electromyography revealed myogenic changes in the deltoid, biceps, and quadriceps muscles. A diagnostic biopsy was performed in the left biceps brachii muscle. The patient was discussed in the neurologic CPC, and the chief discussant arrived at the conclusion that the patient had nemaline myopathy. Opinions were divided among nemaline myopathy, central core disease, and congenital fiber type disproportion. Histologic examination of the biopsied specimen revealed marked atrophy of type 1 muscle fibers; many central nuclei were seen in the type 1 fibers. Approximately 70% of the muscle fibers were type 1 fibers. No nemaline rods or central cores were noted. Histologic appearance was consistent with the diagnosis of congenital fiber type disproportion.

Adult↗
PubMed1995

[Progressive cerebellar ataxia and distal amyotrophy of Charcot-Marie-Tooth type with hyperglutamataemia:two sibling cases].

We reported two sibling cases of progressive cerebellar ataxia accompanied with muscular atrophy of Charcot-Marie-Tooth (CMT) type. Autosomal recessive inheritance was suggested because of the parental consanguinity and other family history. The first symptom was ataxic gait in their teens, and speech disturbance appeared later. Subsequently weakness and muscular atrophy developed in the four limbs in their thirties or forties. These symptoms slowly progressed. Neurological examinations revealed weakness, muscular atrophy, and disturbance of superficial and deep sensation in the distal parts of all limbs. Deep tendon reflexes were absent in the four limbs. There were no pyramidal tract signs, nor dementia. Sural nerve biopsy demonstrated the axonal degeneration without any findings suggesting hypertrophic neuritis. MRI study revealed marked cerebellar atrophy. Although plasma amino acid analysis showed elevated glutamate levels in both cases, activities of glutamate dehydrogenase in leukocytes was not reduced. Here, we propose a new disease entity of hereditary cerebellar ataxia and sensorimotor neuropathy associated with elevated plasma glutamate levels. Abnormal glutamate metabolism may be related to the pathogenesis of this disease.

Adult↗
PubMed1996

[A case of hereditary neuropathy with liability to pressure palsies (HNPP) with diabetes mellitus].

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy recently reported to be associated with deletion of the peripheral myelin protein-22 (PMP-22) gene. We report a 39-year-old man with recurrent brachial plexopathy and foot drop complicated by uncontrolled diabetes mellitus (DM). Right foot drop occurred at 31 years of the age and the patient subsequently experienced difficulty in raising his right arm. Neurological examination revealed weakness of the right deltoid, biceps muscles and tibialis anterior muscles. Deep tendon reflexes were generally absent. Sensory nerve conduction velocities in th ulnar, median and sural nerves were prolonged. Serum glucose and HB Alc levels were elevated to 468 mg/dl and 12.5%, respectively. Initially, it was difficult to diagnose the neuropathy as HNPP because the patient had poorly controlled diabetes mellitus and was unaware of similar disease in his family. In addition, focal asymmetric motor neuropathy and good recovery can develop in diabetes mellitus, occasionally with recurrence. We were able to make a final diagnosis of HNPP by detecting deletion of the PMP-22 gene region. After the diagnosis was confirmed, we examined the patient's family and found that his father experienced recurrent episodes of bilateral foot drop. This case suggests that gene analysis is sometimes essential in the differential diagnosis of hereditary peripheral neuropathies.

Adult↗
PubMed1996

[A 22-year-old man with long-standing weakness and atrophy predominantly in the lower extremities].

We report a right-handed 22-year-old man with muscle atrophy. His prenatal course and the delivery were uneventful, but he walked unsupported at 15 months of the age for the first time. He was apparently well but he was in the slowest group in running in schools. He noted a difficulty in climbing up stairs at 19 years of the age, and he was admitted to our hospital for the work up when he was 22-year-old. His family history and past medical history were unremarkable. On admission, he was a slender and tall guy in no acute distress. General physical examination was unremarkable, but he had high-arched palate and high-arched feet. On neurologic examination, mental status and higher cerebral functions were normal. Cranial nerves appeared intact, however, he had a thin and long face without weakness. The sternocleidomastoid muscles appeared somewhat atrophic and were moderately weak. He was able to walk normally, however, he needed a handrail when he went up stairs. Thigh muscles and triceps surae muscles were atrophic and slightly weak (4/ 5). Muscle tone was hypotonic and no deep tendon reflexes were elicited except for jaw jerk. No ataxia or involuntary movements were seen; sensation was intact. Laboratory examination was unremarkable except for slight increase in serum CK to 145 IU/L. An ischemic forearm exercise test revealed slight elevation of lactate and pyruvate in that base line levels were 5.4 mg/dl and 0.52 mg/dl, respectively, which rose to 11.4 mg/dl and 0.85 mg/dl, respectively, 20 minutes after the initiation of the ischemic exercise. The base line serum ammonia was 102.5 micrograms/dl which decreased to 64.8 micrograms/dl at 20 minutes. A diagnostic biopsy was performed from the left quadriceps femoris muscle. The patient was discussed in a neurologic CPC, and the chief discussant arrived at the conclusion that the patient had nemaline myopathy. Opinions were divided between nemaline myopathy and debranching enzyme deficiency. The results of the ischemic exercise was not typical of glycogen storage disease, but elevations of lactate and pyruvate did not appear to be sufficient to be interpreted as normal. Histologic examination of the biopsied specimen revealed marked type I fiber predominance and abundant nemaline rods. Cytoplasmic bodies were also seen. Histologic characteristics were consistent with the diagnosis of nemaline myopathy. The possibility of concomitant presence of AMP deaminase deficiency was discussed, because serum ammonia did not elevate in the ischemic exercise test.

Adult↗
PubMed1996

[Isolated infranuclear oculomotor nerve palsy caused by traumatic midbrain hemorrhage: case report].

Traumatic brain stem hemorrhage is often associated with severe head injury and has a high mortality rate. When these patients survive, the midbrain syndromes are usually complicated. The authors report an unusual case with isolated oculomotor nerve palsy caused by acute traumatic midbrain hemorrhage. A 50-year-old woman was brought to Kobe City General Hospital because she had fallen off a bicycle and hit the face severely on the ground. On admission, she was drowsy. Neurological examination revealed normal muscle tone in all extremities without motor or sensory disturbance. Deep-tendon reflexes were symmetrical and there were no Babinski signs present. The left eye lid dropped and the left pupil was 5.5 mm in diameter without responses to light. The eye ball was slightly deviated to the left side on neutral position. There were no extraocular movements except for abduction to the left side. The right pupil measured 3 mm in diameter and was reactive to light promptly. Plane skull films failed to show fractures. Computed tomography (CT) scan 30 minutes after the accident suggested the existence of a hemorrhage in the anterior tegmentum of the left midbrain. Four hours later, a midbrain hemorrhage was diagnosed by consecutive CT scans. She was alert on the next day, although the third nerve palsy remained. The left blephaloptosis disappeared gradually during the next month. At 6 months after the accident, the left pupil was still dilated and did not react to light, either directly or indirectly. Medial gaze recovered almost fully, while both upward and downward movements were still limited. The mechanism of the isolated oculomotor nerve palsy in this case was discussed with a review of the related literature.

Accidents, Traffic↗
PubMed1996

[A case of X-linked bulbospinal muscular atrophy with bilateral abductor vocal cord paralysis].

We report a 54-year-old man with X-linked bulbospinal muscular atrophy (BSMA) with bilateral abductor vocal cord paralysis. He noticed distal weakness in the lower limbs at age 20. In the following 18 years the weakness and atrophy of his leg muscles increased gradually. He has complained of stridors during respiratory tract infection and snored heavily during sleep since his age of 50. He was admitted to our hospital for the progressive stridors during meals. His two brothers were said to have similar complaints. Physical examination showed gynecomastia, hypertension and inspiratory stridor. Neurologic examination revealed distal muscular atrophy in his four extremities, especially more severe in bilateral lower limbs. Deep tendon reflexes were absent in all extremities. His tongue was slightly atrophic with fasciculation. Neurological diagnosis was made by family history, neurological findings, electromyography and a CAG repeat expansion in the androgen receptor gene. Lungs and diaphragm were normal on the chest radiograph. Cranial MRI including brain stem was also normal. Direct laryngoscopy showed a complete paralysis of both vocal cords in paramedian position. Tracheostomy was done right away; his respiratory distress showed prompt improvement after the tracheostomy. No previous report of bilateral vocal cord paralysis in BSMA has been found. Life expectancy in BSMA patients with vocal cord paralysis may be shortened because of respiratory distress or asphyxia. Of clinical importance is a careful assessment of vocal cord function in BSMA patients.

Endoscopy↗
PubMed1996

[Tactile extinction following the cerebral sinus thrombosis. A study using event-related potentials].

We reported a 46-year-old woman in whom cerebral sinus thrombosis manifested itself in headache and weakness while she was on an oral estrogen preparation. The neurological examinations revealed monoparesis of the right upper extremity, hyperactive right deep tendon reflex and disturbance of the joint sense, stereognostic sense, two-point discrimination and skin writing sense in the right upper extremity, in addition to tactile extinction. Brain CT showed empty triangle sign. MRI revealed infarction near the left postcentral gyrus and thrombosis of right sigmoid sinus. In the MRA study, there was low signal intensity in the posterior portion of the superior sagittal sinus and right transverse sinus. Short latency SEP in upper extremity showed that the central conduction time was normal, while the amplitude of wave components after N20 was reduced on the right side. Both palms were given bilateral or unilateral pressure stimuli. When event-related potentials (ERP) were evoked, using bilateral stimuli as a rare target, and left unilateral stimuli as a non-target, the P 300 latency was prolonged to 450 msec but was restored to normal with the improvement of tactile extinction. These results seem to suggest that the tactile extinction is ascribable to a disturbance of recognition at the higher brain function level and that ERP can be a useful objective yardstick in the evaluation of extinction phenomenon.

Event-Related Potentials, P300↗
PubMed1996

Schwartz-Jampel syndrome: clinical, electromyographic and genetic studies.

Two sisters aged 9 and 7 from consanguineous parents are described. Both of them develop myotonia, muscular weakness as early as the first year after birth. At the age 3-4 a disturbed gait appeared due to knee joint contractures and limited joint movements. The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low hair-line), kyphoscoliosis, pigeon breast, severe contractures of the knee and elbow joint and foot deformities. The elder sister cannot walk. Hirsutism of all four limbs is found as well as sparse subcutaneous tissue. Muscles are stiff and firm. Tendon reflexes of the lower limbs are absent. Muscle enzymes show slightly increased values. The EMG needle examination in both sisters was abnormal. Spontaneous, continuous, high-frequency, low-voltage electrical discharges were observed in all distal and proximal muscles of the hands and legs. Some of them have a typical myotonic pattern. The MCV and the SCV was within the normal range. Both parents of our patients, their sister aged 4, as well as their grandparents showed no clinical and EMG abnormalities. All these data allow authors to affirm the diagnosis chondrodystrophic myotonia.

Action Potentials↗
PubMed1996

Juvenile-onset of Dejerine-Sottas disease in a Taiwanese woman.

Dejerine-Sottas disease is an uncommon hereditary neuropathy which has not been reported in Taiwan. We describe a 57-year-old woman who had slowly progressive weakness in her four limbs since adolescence. None of her close relatives had the disease and no consanguinity was noted. Neurologic examination showed severe weakness and vibratory sensation loss in the four limbs. The tendon reflexes were generally absent. Electrophysiologic studies suggested a systemic myelinopathic process. Light and electron microscopy of the sural nerve biopsy specimens revealed many onion-bulb shapes formed by the Schwann cell processes or basement membranes without any evidence of myelin sheaths around the axons, which are characteristic features of Dejerine-Sottas disease.

Age of Onset↗
PubMed1996

[Fisher's syndrome with profound hypotension].

A case of Fisher's syndrome was described in which profound hypotension was encountered. A 70-year-old previously healthy female developed diplopia and unsteady gait following an upper respiratory infection. On admission, her blood pressure was 140/60 mmHg. Adduction of the left eye and elevation of the right eye were limited. Other cranial nerve functions and muscle strength were intact. She had gait ataxia with negative Romberg sign. Tendon reflexes were hypoactive. The cerebrospinal fluid, electrocardiography, and cranial MR imaging were unremarkable. Her serum had a high titer of IgG anti-body. After admission she developed bilateral internuclear ophthalmoplegia and severe gait ataxia. During double filtration plasmapheresis, her systolic pressure fell down to 60 mmHg. To maintain her systolic pressure between 90 and 120-mmHg supine, infusion of lactated Ringer solution (3,000-3,500 ml/day), dopamine hydrochloride (10-12 micrograms/kg/min), and norepinephrine (50-90 ng/kg/min) was needed for 3 weeks. There was no evidence of denervation supersensitivity. Echocardiography demonstrated normal cardiac output, suggesting that decreased vascular resistance was responsible for her hypotension. In Guillain-Barré syndrome, cardiovascular dysautonomia is frequently encountered and is occasionally related to sudden death. In contrast, Fisher's syndrome with cardiovascular dysautonomia has been rarely reported. Cardiovascular functions should be monitored in every patient with Fisher's syndrome.

Aged↗
PubMed1996

[Usefulness of MRA in an infant with cerebral infarction due to streptococcal meningitis].

We described a 4-month-old boy with cerebral infarction due to streptococcal meningitis. He complained of cough and high fever for 2 days. On the next day he admitted to our hospital because of bad humor, drowsiness, and vomiting associated with high fever, respiratory failure and loss of consciousness. On admission, he had opisthotonic posturing, anisocoria and elevated deep tendon reflexes with left side dominance. The cerebrospinal fluid showed increased cells (564/mm3), protein (295 mg/dl), and decreased sugar (1 mg/dl). Streptococcus pneumoniae was detected in the cerebrospinal fluid. Despite intensive treatment by antibiotics, glycerol, and dexamethasone, general condition was worsened, MRI showed a high intense area along the territory of bilateral anterior cerebral arteries and left middle cerebral artery 3-D time-of-flight MRA revealed a decreased signal of these arteries, confirming cerebral infarction. Recanalization of the arteries were observed 17 days after the first MRA examination. Since complication of cerebral infarction influences the prognosis of meningitis, repetitive MRA is very beneficial in patients with bacterial meningitis in order to evaluate the vascular lesion.

Cerebral Infarction↗
PubMedDate not supplied

Late infantile type neuronal ceroid lipofuscinosis: report of one case.

A 4-year-10-month-old boy with late infantile type neuronal ceroid lipofuscinosis was reported. He presented with progressive dementia, loss of visual acuity, gradual regression of speech and motor functions, and myoclonic jerks. A hyperactive deep tendon reflex was noted, but there was neither muscle weakness nor hepatomegaly. Serum lactate, pyruvate and ammonia levels were within normal limits. The funduscopic examination showed diffuse mottling of the retinal pigmented epithelium. The electroencephalogram showed irregular bilateral spike-and-waves or polyspike-and-waves and isolated focal spikes from the bilateral parieto-occipital regions. The wave forms of visual evoked potentials were flat. The electroretinogram was unrecordable. The somatosensory evoked potentials showed prolonged central conduction times from bilateral median nerves. The brainstem auditory evoked potentials were within normal limits. Diffuse cerebral and cerebellar atrophy were noted on magnetic resonance imaging. The diagnosis was confirmed by the electron-dense cytoplasmic inclusion bodies within the conjunctival squamous epithelial cells. No specific treatment was available. Regular anticonvulsants were not given during follow-up because seizures attacked him only on occasion. His visual acuity was progressively impaired. In addition to nearly total absence of speech, an inability to communicate and walk independently was also noted. The clinical features according to the subtypes, radiology, pathology, managements and prenatal diagnosis for this case are discussed.

Child, Preschool↗