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PubMed1989

Salient clinical features of Sheehan's syndrome.

The natural history of Sheehan's syndrome is chronic. There is a long delay between peripartum hemorrhage and diagnosis. The majority of patients delivered at home and resided in rural areas where modern obstetric care was not readily attainable. The syndrome should be suspected in patients who present with asthenia-weakness, adrenal crisis and secondary amenorrhea. The symptoms that the patients usually had were secondary amenorrhea, asthenia-weakness, loss of axillary and pubic hair and failure to lactate. The important physical signs were loss of pubic and axillary hair, dry skin, slow relaxation phase of deep tendon reflex, hypopigmented areolar and pallor. The common laboratory features of the patients were anemia, eosinophilia, hypoalbuminemia, elevation of serum SGOT but not SGPT, hyponatremia and low fasting plasma glucose.

Adolescent↗
PubMed1989

[A patient with alternating hemiplegia in childhood].

Alternating hemiplegia in childhood (Verret, 1971) is a disorder presenting with frequent episodes of alternating hemiplegia from early infancy. We report a patient with this disorder, along with a pathophysiological study and a discussion about the available therapies for this disorder. The patient, an 11-year-old boy, visited our hospital with episodes of alternating hemiplegia from early infancy. His family history showed that many members suffered from migraine. He was born with asphyxia. Mental and motor developmental delays were seen from early infancy. The hemiplegic episodes with ipsilateral facial palsy had occurred frequently from early infancy. The episodes were frequently induced by emotional stress. The duration of hemiplegia varied from 10 minutes to 3 days. From the age of 11 years, he had begun to have migrainous attacks with or without hemiplegic episodes. Neurological examination revealed slight muscle hypotonia, choreoathetosis and dystonic movements induced by locomotion, positive Myerson sign, increased deep tendon reflexes and Babinski reflex. CAG, VAG and CAT revealed normal findings. EEG revealed diffuse generalized slowing during hemiplegic episodes. Measurement of regional cerebral blood flow (CBF) by 133Xe inhalation method revealed a slight decrease of bilateral CBF during a quadriplegic episode. Positron emission tomography using C15O2 revealed a slight decrease of CBF at the insula, putamen and claustrum of the left side during a right sided episode. Increased excretion of urinary 5-HIAA was seen during one episode. From our clinical and laboratory findings, we think this disorder may be a special type of migraine. Therapeutic trials of diazepam and flunarizine were both effective, but the initial effectiveness was decreased after 5 months.

Age Factors↗
PubMed1989

[A case of psittacosis meningitis complicated with uveitis].

A 14-year-old boy was admitted to our hospital complaining of dull headache, high fever and decreased visual acuity of his left eye. Physical examination on admission revealed nuchal rigidity, positive Kernig's sign, slight hyperreflexia of deep tendon reflex, and decreased visual acuity of his left eye to 0.1. The chest was clear to percussion and auscultation, and no abnormal findings was observed on chest x-ray examination. On laboratory examination, leukocytosis (12,800/mm3) and increased erythrocyte sedimentation rate (83mm/hr) was observed. Cerebrospinal fluid (CSF) examination showed pleocytosis (308/3, mono 286, poly 22) and slight elevation of protein without decrease of glucose content (52mg/dl). On ophthalmologic examination, characteristic anterior and posterior uveitis was found in both eyes, more on the left. Antibody titer to psittaci was significantly elevated in both serum and CSF in his clinical course, therefore, this case was diagnosed as psittacosis meningitis complicated with uveitis. Minocycline (200mg/day) was administered from the 30th hospital day. The effect of this drug was dramatic, and fever and dull headache rapidly disappeared. In addition, fundus oculi examination on the 85th hospital day, revealed no abnormality in his eyes, and his visual acuity returned to normal level (1.0). This case was considered to be extremely rare case of psittacosis, because in addition to meningitis, the patient complicated with uveitis without any respiratory signs and symptoms.

Adolescent↗
PubMed1989

[A case of myokymia-hyperhidrosis syndrome with muscle involvement].

The present report deals with an unique case of myokymia-hyperhidrosis syndrome. A 46-year-old man developed generalized relatively slow, undulating movement of the muscles, excessive sweating, muscle cramps and easy fatigability since three years ago. On admission, he had generalized myokymia, abnormal movements consisting of slow, undulating and worm-like muscular contractions. There was no muscle atrophy or weakness, or sensory deficits. Deep tendon reflexes were diminished and no Babinski sign or other pathological reflexes were present. Muscle tone was in normal range. Neither fasciculation nor myotonia was found. Laboratory examinations revealed elevation of BMR with normal thyroid function. The value of anti-Ach receptor antibody was below 0.6nmol/l. EMG recordings showed (1) continuous spontaneous repetitive discharges of NMU at a frequency of 30-50Hz, with duration of 1-2 seconds and amplitude of about 1 mV, were demonstrated at rest and the findings were consistent with myokymia, (2) waxing phenomenon was observed on repetitive peripheral nerve stimuli, which didn't improve by the tension test, and (3) high amplitude, long duration and polyphasic NMU, a sign of denervation, were observed on voluntary contraction. Muscle biopsy specimens from the left quadriceps showed a number of internal nuclei. On electron microscopy, clustered mitochondria and filamentous bodies were very often found in subsarcolemma. From these observations, damage to peripheral nerves, neuromuscular junctions and muscles may be responsible for the generalized myokymia in our patient.

Electromyography↗
PubMed1989

[Unilateral palatal myoclonus with peculiar ocular movements--neurotological studies and MRI].

This is the first report of unilateral palatal myoclonus with which two different ocular movements were synchronized. A 55-year-old woman was admitted to our hospital due to intubation and dysarthria of sudden onset after three similar attacks for these four years. On admission right ptosis, hypalgesia in the right face, right facial nerve palsy, dysarthria, bilaterally increased deep tendon reflexes and trunkal ataxia were noted. Continuous repetitive contractions at 110/min frequencies were observed in the left soft palate, pharynx and larynx. On electronystagmography and electro-magnetic search coil system (Skala system), two different ocular movements, i.e., rotary oscillation with torsion and nystagmus to the right, successively alternated each other at random during eyelids closure. They were synchronized with palatal myoclonus. True nystagmus synchronized with palatal myoclonus has not been reported. When she calculated, rotary oscillation disappeared. In sleep polygraphy, rotary oscillation reduced in amplitude in stage 1 and disappeared in stages 2, 3, 4 and REM. On the other hand, the nystagmus reduced in amplitude in stage 1 and 2 and disappeared in stages 3, 4 and REM. The direction of nystagmus was converted to the left in stages 1 and 2. Similarly, in a drowsy state induced by intravenous injection of 7 mg diazepam, the direction of the nystagmus was converted to the left. On brain magnetic resonance imaging (MRI) right inferior olive was identified as a well circumscribed, enlarged increased signal area on T2-weighted and proton density-weighted images in addition to the lesions of infarcts in left corona radiata, posterior limb of right internal capsule and tegmentum pontis.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain Stem↗
PubMed1989

[Paramedian thalamic and midbrain infarcts associated with palilalia].

We report a case with paramedian thalamic and midbrain infarcts associated with palilalia. A 62-year-old man fell into a comatose state, and was admitted to an emergency hospital. Two days later, his consciousness level began to improve. Neurological examination revealed bilateral cerebellar ataxia, oculomotor nerve palsy, lack of spontaneity, and amnesia. Deep tendon reflexes were normal on all extremities, and no muscular weakness was observed. Babinski sign was noted on the right side. Muscle tone was decreased. No sensory disturbance was found. Two months later, he began to show compulsive repetition of syllables, words, or phrases, and was transferred to our hospital. He involuntarily repeated one syllable or a word five to ten times in spontaneous speech, repetition of phrases being not so frequent as that of syllables or words. This speech abnormality was considered as palilalia, which Souques first reported in 1908. The palilalia of this patient was rarely noted when he repeated words spoken to him by the examiner. As he spoke, the rate of speech gradually increased, the loudness reduced, and finally he began to whisper (palilalie aphone). The palilalia continued for four months. MRI showed infarcts in the medial thalami, subthalamic and midbrain on both sides. Auditory brainstem response showed delayed latency of bilateral V waves, and EEG revealed bilateral theta waves. In this patient no lesion other than thalamus, subthalamus and midbrain was detected by MRI. It is suggested that bilateral lesion of the thalami and their projection areas caused palilalia in this patient.

Cerebral Infarction↗
PubMed1989

[A case of venous dural sinus thrombosis presenting dementia syndrome. An autopsy case].

We report clinical and pathological features of a case of dementia syndrome due to dural sinus thrombosis. In three years before admission, the patient, a 64-year old man, had had four convulsive attacks; scattered calcification shadows were disclosed by plain CT. Ten months before the admission, he complained of progressive memory disturbance and dyscalculia. General physical examination showed no remarkable abnormalities except for bruit at the left mastoid process. Although his time orientation was poor, he was otherwise fully awake. Neurologically, memory disturbance, finger agnosia, and dyscalculia were observed. Right Barré's sign, and exaggerated right patellar tendon reflex were observed. Plain X-ray CT revealed calcification-like, scattered high-density areas in the floor of the cerebral cortical sulci. Enhanced CT showed abnormal vessel high-density areas in both the cerebrum and brainstem. Cerebral angiography showed thrombosis of bilateral transverse sinuses, arterio-venous fistula in the left transverse sinus, and remarkably dilated cortical veins over both cerebral hemispheres. Positron emission tomography revealed misery perfusion areas in bilateral cerebral hemispheres. We presume that the mass effect of venous engorgement and chronic ischemia due to the arterio-venous fistula caused the dementia syndrome. These clinical manifestations were improved by amantadine and the patient was discharged. During follow-up, he died of subarachnoid hemorrhage, and an autopsy was performed. Pathological findings were as follows: 1) cortical and subcortical multiple-infarction in the cerebrum, 2) hematoma in the subarachnoid space, 3) venous dilatation of the cortical veins and pseudocalcification of their walls, and 4) thrombus in the transverse dural sinus.

Amantadine↗
PubMed1989

[Familial scapuloperoneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly].

The proband, a 17-year-old boy, was admitted to our department because of the difficulty in standing on heel. Physical examination revealed a marked weakness and atrophy of bilateral lower legs, especially anterior tibial muscles. Patellar and Achilles tendon reflexes were abolished. Marked hepatomegaly and moderate splenomegaly were noted on abdominal echogram and CT scanning. Serum creatine kinase, lactate dehydrogenase, GOT and GPT were markedly increased. There were no abnormal findings in thyroid function, serum lipid analysis and serum lactate level after ischemic forearm exercise test. EMG of anterior tibial and calf muscles showed a mixture of myogenic and neurogenic patterns and biopsy specimen of calf muscle was compatible with a dystrophic change. Liver biopsy specimen revealed no noticeable change except a slight ballooning of hepatocytes in light microscopy. However, electron microscopic examination showed a marked increase of intracellular vesicles and enlarged smooth ER in which low-density, cotton-like materials were contained. In family study, both his father and paternal uncle were also affected with advanced scapuloperoneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly. The disorder differs from Miyoshi's distal muscular dystrophy, which shows an early involvement of flexor muscles in lower extremities and is inherited as an autosomal-recessive trait. Although the etiology of hepatomegaly in this case remains to be elucidated, the special findings on electron microscopic study imply the possibility of some unknown metabolic disorder involving both muscle and liver. This disease seems to be a new type of scapuloperoneal-type myopathy, probably having an autosomal-dominant inheritance.

Adolescent↗
PubMed1989

[A case of Sjögren's syndrome with mononeuritis associated with high levels of circulating immune complexes].

A 32-year-old woman with Sjögren's syndrome accompanied by mononeuritis of right lower extremity was described. She admitted Shinshu University Hospital with the chief complaints of Raynaud's phenomenon and generalized lymphadenopathy. One year before admission Raynaud's phenomenon of right hand was first noticed. One month later she complained of a gritty sensation in the eyes and severe dryness of the mouth. On admission, she had systemic lymphadenopathy. Neurological examination revealed decreased light touch and pinprick sensations and decreased deep tendon reflexes in right lower extremity. Lip biopsy revealed marked mononuclear cell infiltrates around the salivary glands. Laboratory data included IgG 3,007 mg/dl, circulating immune complexes 1,200 micrograms AHGeq/ml (Raji-cell ELISA), anti-nuclear antibody 2,560X (speckled pattern) and anti-SSA antibody 256X. The levels of total protein, IgG and immune complexes were increased in the CSF of this patient. Sural nerve biopsy revealed a decreased number of large myelinated fibers and perivascular lymphocyte infiltration of vasa nervorum. Direct immunofluorescent staining showed deposition of IgG and C3 in the endoneural vessel walls. The increased level of immune complexes were decreased in the sera of the patient, accompanied by remission. These results suggest that immune complexes may be involved in the pathogenesis of a mononeuritis associated with Sjögren's syndrome.

Adult↗
PubMed1989

[A case presenting manifestations of bulbospinal muscular atrophy with senile onset, rapid progression and marked asymmetry].

A 64-year-old man was admitted to our department because of muscle cramp, atrophy and weakness of the limbs together with difficulty in walking, which had gradually progressed from age 60. About 1 year prior to admission, he had noticed hand tremor and gynecomastia. On admission, neurological examination revealed diffuse muscle atrophy and weakness of the extremities, which were more obvious on the right side with preponderance in the right leg. Bilateral postural hand tremor was also more prominent on the right hand. Fasciculations were observed both in the extremities and tongue. The remaining cranial nerves and cerebellar functions were intact. Sensation was normal except for slightly decreased vibratory sense in the distal part of the legs. Deep tendon reflexes including jaw jerk were increased with the exception of hyporeflexia of the right leg. Babinski sign was negative bilaterally. Blood examination disclosed slight elevation of CK and fasting glucose level of 110 mg/dl. Glucose tolerance test showed a diabetic pattern. CSF examination showed total protein of 74 mg/dl and IgG of 12 mg/dl. On a series of endocrinological studies, there was no significant elevation of androgen and estrogen both in serum and urine except for slight elevation of serum E1 level. Serum LH and FSH, however, were markedly high, which responded far beyond the normal range following to 0.1 mg injection of LH-RH. These results suggested that gynecomastia might be caused by dysfunction of the hypothalamus-hypophysis system. Brain CT and spine MRI showed no abnormality. Muscle biopsy obtained from the right quadriceps femoris revealed neurogenic abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗
PubMed1989

[Chronic demyelinating polyradiculoneuropathy associated with malignant histiocytosis].

A case of malignant histiocytosis (MH) presenting with peripheral nerve involvement is described. A 67-year-old man initially noted left facial weakness on July 20, 1986. The symptom was improved within a week, however, two weeks later he noticed numbness in his fingers and a burning pain in his legs, which was followed by double vision and progressive weakness in all four limbs. On examination, he was found to have total ophthalmoparesis of the right eye and a trace of the left facial palsy. There was severe weakness of the leg muscles, as well as mild weakness of the arms. This was accompanied by wasting of his limbs. All tendon reflexes were absent. Planter responses were flexor. Although cutaneous sensation was intact, vibratory sense was markedly impaired in the legs below the knees. The sphincter function was mildly disturbed. The sedimentation rate was 32 mm/hr. The hemoglobin was 11.9 g/dl and the leukocyte count was 5,700/mm3. The platelet count fell to 60,000/mm3. Results of routine biochemical and radiological studies were unremarkable. The cerebrospinal fluid protein level was 129 mg/dl with a normal cell count. Motor nerve conduction study revealed marked reduction in amplitude of the compound muscle action potential, slow motor nerve conduction velocities and multifocal conduction blocks along the nerve trunks (the left ulnar nerve in the forearm, the bilateral tibial nerve in the lower leg). F-wave was absent or elicited with prolonged latency and with increased chrono-dispersion. Sensory nerve had normal or nearly normal conduction. EMG sampling showed an impaired interference pattern during voluntary contraction and a few denervation potentials at rest.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1989

[Signs of chronic overheating in miners of deep coal mines].

Both miners exposed to high temperature and excess heat and miners working under permissible temperature conditions (a control group) had similar nonspecific signs, i. e., complaints of heartache and headache, erethism, flaccidity, hydrosis, degradation of appetite and sleep, vertigo, dimness, the sense of air shortage, palpitation in rest, uncertain gait, muscle spasm. There were also presented the following objective data: tremor of close eyelids, asymmetry of tendon reflex, convergence weakness, emotional lability, changes in orthostatic test results, higher Kerdau index, instability of sensitizing Romberg's test. The above signs were more pronounced in miners exposed to high temperature, thus it was possible to regard them as indicators of miners' chronic overheating.

Adult↗
PubMed1989

[Two siblings of Leber's congenital amaurosis with an increase in very long chain fatty acid in blood: relationship between peroxisomal disorders and Leber's congenital amaurosis].

We reported two siblings of Leber's congenital amaurosis associated with increased level of very long chain fatty acid (VLCFA) in blood. Case 1, a 3 1/2-year-old boy had congenital blindness, severe psychomotor retardation, hepatomegaly, profound hypotonia, loss of deep tendon reflexes, muscular atrophy and weakness, and non-convulsive status epilepticus characterized by a sudden respiratory failure, and also showed a flat electroretinogram, non-pigmentary retinal degeneration, severe atrophy of the brain stem and cerebellum, hepatic fibrosis, decreased motor and sensory conduction velocities and atlanto-axial instability. Sural nerve biopsy revealed severely decreased number of total myelinated fibers without remarkable demyelination or remyelination. Case 2, an elder sister of case 1, with pigmentary retinal degeneration, hepatomegaly and pericarditis had died at 3 months. Autopsy revealed hypomyelination and heterotopy of the cerebral white matter, hepatic fibrosis, renal microcysts and normal adrenal cytoarchitecture. In case 1, the level of VLCFA was increased twofold and sevenfold of controls in serum and in red cell membrane, respectively. Phytanic or trihydroxycholestanoic acid was not detected in the serum and bile. Normal shaped peroxisomes were definitely recognized in biopsied liver by means of electronmicroscopic histochemistry. From the above findings, these patients was thought to be a new variant of peroxisomal disorders relating to degradation of VLCFA, other than Zellweger syndrome, infantile Refsum disease and infantile adrenoleukodystrophy. It was concluded that peroxisomal functions should be studied in cases of Leber's congenital amaurosis.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1989

[HTLV-I associated myelopathy (HAM) with adult T-cell leukemia (ATL)].

A 42-year-old female case of HTLV-I associated myelopathy (HAM) combined with adult T-cell leukemia (ATL) was reported. The patient noticed paresthesia in the soles at the age of 17, and gait disturbance and urinary retention at the age of 20. These symptoms progressed slowly. The patient showed indurations in both hypothenar regions and leukocytosis of 17,900/microliters in the peripheral blood at the age of 41. On admission to our hospital, she had spastic gait, muscle weakness of four extremities, increased deep tendon reflexes, pathologic reflexes, mild decreased of vibration sense and vesico-rectal disturbance. Anti-HTLV-I antibody (PA method) was increased to 1,024 fold in serum and 64 fold in spinal fluid. Thus, this patient was diagnosed as having HAM. In addition, leukocyte count in the peripheral blood was increased to 17,200/microliters including 33% atypical lymphocytes, and lymphocytes subset analysis showed 96.1% CD4+, 1.8% CD8+ and marked increase in CD4/CD8 ratio. Southern blot analysis of HTLV-I provirus DNA in the lymphocytes was of complete type with a monoclonal mode of integration. These findings indicated a diagnosis of ATL for this patient. HLA typing revealed A2, A11, Bw22, Bw46, Cw1, Cw3, being compatible with HAM type reported by Usuku et al. HAM and ATL were reported to be caused by an identical virus. However, there has been no case report of combination of the two diseases. Usuku et al proposed that the development of each disease was based on the differences in HLA haplotypes and HTLV-I-specific immune responsiveness.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1989

[Adrenoleukodystrophy with high signal intensity areas in bilateral pyramidal tracts from internal capsule through medullary pyramids on MRI].

We reported a case of adrenoleukodystrophy in which MRI showed high signal intensity areas in the pyramidal tracts from the internal capsule through the medullary pyramids. A 20-year-old man was admitted with complaints of slowly progressive spastic paraparesis of one and a half year duration. He had no mental deterioration, visual disturbance or sensory impairment. His maternal cousin died of adrenoleukodystrophy at the age of 13 years old, after showing progressive visual disturbance, dementia and quadriplegia. On admission, neurological examination revealed spastic tetraparesis and exaggerated deep tendon reflexes with pathological reflexes. Examination of the mental function and cranial nerves were normal. There were no sensory abnormalities in all modalities. Routine laboratory data including hematological studies, urinalysis, serum electrolytes and enzymes were all normal. Endocrinological examinations showed no adrenocortical insufficiency, and testicular function was normal. Cerebrospinal fluid, EEG, needle EMG and nerve conduction studies were also normal. CT scan showed a mild ventricular enlargement and no low density areas were seen in the cerebral white matter. Spin-echo MRI (SE 2,000/100, 2,000/40) revealed continuous high signal intensity areas in the pyramidal tracts from the internal capsule through medullary pyramids bilaterally. There were no abnormal findings in the spinal cord on MRI. Electrophysiologically, the brain-stem auditory evoked potentials (BAEPs) were abnormal and suggested the presence of bilateral dorsal brain stem lesions. Short latency somatosensory evoked potentials (SEPs) obtained by the bilateral tibial nerve stimulation revealed slowing of the central conduction time, showing delayed P37 latency and normal peripheral conduction time.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenoleukodystrophy↗
PubMed1989

[Familial spastic paraplegia with syndrome of continuous muscle fiber activity (Isaacs)].

A woman aged fifty-three developed paraparesis at the age of 4, which progressed slowly and required crutches by the age of 30. At the age of 51, muscle stiffness involved bilateral hands and arms gradually. At the age of 53, she suffered from painful spasms in right deltoid muscle. Her two brothers had spastic paraplegia without other neurological deficits. Her paternal grandfather and maternal grandmother were cousins. Slight dementia was noted (WAIS: IQ, 79). Her posture was stiff and muscles of upper limbs were in a persistent contraction; Subcutaneous tissue was thin, and muscles were well-defined and firm. There was moderate muscle weakness of legs and hands. Continuous fasciculations and myokymias were recognized in muscles of the arms and the limb girdles. Muscle tone was considerably increased especially in the bilateral arms. The deep tendon reflexes were exaggerated with extensor plantar responses. Profuse sweating affected palms, soles and backs. No sensory disturbance was appreciated. There was no myotonic responses to percussion of muscles. Following laboratory data were normal; thyroid functions, CSF studies, anti HTLV-I antibody and long chain fatty acid in red blood cells, myelography and brain CT except for increased basal metabolic rate (53%). Electromyographic study in the arms and hands revealed spontaneous motor unit activities including doublets at rest and increased proportion of polyphasic potentials and high amplitude potentials in voluntary contraction. Biopsy of right quadriceps femoris muscle showed hypertrophy of type I fibers and angulated atrophy of type II fibers. Continuous muscle activities in upper limbs did not change at sleep or with intravenous administration of 7 mg diazepam.(ABSTRACT TRUNCATED AT 250 WORDS)

Electromyography↗
PubMed1989

Fiber type disproportion in nemaline myopathy.

A 21-year-old female with nemaline myopathy and concomitant dysmorphism characteristic of elongated face, high arched palate, scoliosis and pes cavus is reported. Neurological examination revealed mild bilateral facial weakness, moderate proximal muscle weakness, and generalized absence of deep tendon reflexes in all limbs. Electromyography disclosed a moderate amount of fibrillations and positive, and short duration polyphasic waves. A biopsied specimen, obtained from the vastus lateralis muscle, showed abundant nemaline bodies from pathological study, and electron dense particles on Z-line by electron-microscopic examination. In addition, a twin-peaked population curve in fiber diameter, selective type 1 muscle fiber atrophy (34.3 um +/- 8.7 um in diameter) as well as type II fiber hypertrophy (117.0 +/- 55.8 um in diameter), and type 1 fiber grouping were observed. We report the case and raise another important clue of fiber type disproportion in the diagnosis of nemaline myopathy.

Adult↗
PubMed1989

[A case of motor and sensory neuropathy with elevated serum lactate and pyruvate which responded to large dose of coenzyme Q10 therapy].

A 16-year-old high school male student was admitted to our hospital with complaints of difficulty in walking and muscle atrophy of the lower legs. He noticed his gait disturbance when he was about 12 years old and his symptoms had gradually increased. On examination, he was unable to walk on his heels and on his toes. He had mild pes cavus and marked muscle wastes of the lower legs. The weakness was limited to the feet, lower legs, and hands. Mild sensory losses were demonstrated inside of the feet. Autonomic dysfunction was not present. The deep tendon reflexes were diminished. Nerves were not enlarged or excessively firm. On laboratory examinations, pyruvate and lactate were elevated in both serum and cerebrospinal fluid. The serum level of coenzyme Q10 (CoQ10) was low (0.57 micrograms/ml). Nerve conduction velocities were normal or just below normal except sural nerves and amplitudes of M waves were decreased. The sural nerve finding revealed marked reduction in number of large myelinated fibers and no onion bulb formation. The teased myelinated fiber analysis suggested ongoing axonal degeneration. Electron microscopy showed no mitochondrial abnormalities in muscle and nerve. The therapeutic trial of large dose of CoQ10 (120 mg/day) was dramatically effective to muscle weakness and atrophy at about third week after therapy. His gait disturbance disappeared after about 16 months. These findings may indicate an alteration of mitochondrial function in this case.

Adolescent↗