Gene/Protein Disease Symptom Drug Enzyme Compound
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A 42-year-old woman was admitted for complaining of gait disturbance lasting for 2 years. She had a past history of hearing loss and bilateral ocular ptosis since her age of 21 years. Neurological examinations revealed severe external ophthalmoplegia, ptosis and muscular weakness of neck and extremities, but no dementia. Laboratory examinations showed high level of serum CK and slight elevations of CSF protein, lactate and pyruvate. The QT interval on ECG was prolonged. The EEG finding was slightly abnormal. The neurogenic pattern on EMG was noted. Muscle biopsy was performed at the quadriceps muscle. Its specimens demonstrated mixed changes of muscular atrophy and ragged red fibers. From these findings, Kearns-Sayre-Shy syndrome was diagnosed. It was noted in this case that brain MRI (T2-weighted image) revealed bilateral diffuse high signal intensity areas on cerebral white matter and brainstem. It seems that the lesions of central nervous system may progress subclinically for many years in cases of KSS, as our case shows.
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PMID:[A case of Kearns-Sayre-Shy syndrome with abnormal signal intensity on MRI in cerebral white matter and brainstem]. 193 67

A 42-year-old woman presented with persistent headaches, vertigo, vomiting and transient periods of unconsciousness. Examination revealed a spheno-nasopharyngeal encephalocele lying between the ethmoid bone and the sphenoid sinus. It was possible to push the prolapse gently back by a transmaxillary procedure and to close the bony gap with resorbable cellulose. Long term follow up revealed no further complications and complete healing. The otorhinolaryngologist should be willing and able to treat such encephaloceles of the ethmoid roof or of the sphenoid sinus.
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PMID:[Encephaloceles]. 342 80

A 42-year-old housewife with myasthenia gravis (MG) for 22 years, who was initially treated by radiation to the hyperplastic thymus and anti-cholinesterase therapy, developed bilateral ptosis, paresthesia of her right face and decreased taste sensation after house work at the age of 42 years. Neurological examinations revealed lateral and vertical gaze palsy, upward nystagmus, decreased taste sensation, peripheral facial palsy on the left side. She also had hypalgesia on the right face, arm and chest up to Th7 level, and urinary retention. She had hyperreflexia on the right side but no extensor toe signs. CSF study revealed 5 cells/microliters and protein of 23 mg/dl. Serum IgG anticardiolipin antibody was positive. Magnetic resonance imaging studies revealed high intensity areas in the brainstem tegmentum and periventricular white matter. Diagnosis of multiple sclerosis (MS) was made. This is the first case in which MG, MS and serum anticardiolipin antibody were present simultaneously, which may be all due to some immunological abnormality. Steroid therapy made anti-cardiolipin antibody negative, but new MS plaque developed in 7 months, which favors diagnosis of MS rather than infarction, since the activities of ACLA were not correlating to clinical symptoms. MRI was helpful in detecting MS plaques in MG patients.
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PMID:[A case of myasthenia gravis associated with multiple sclerosis and positive anticardiolipin antibodies]. 836 70

A 42-year-old woman presented with ptosis of the left upper lid and limitation of elevation and adduction of the left eye. Neuroimaging revealed a left cavernous sinus lesion which on biopsy proved to be a meningioma. She was symptomatically stable for three weeks until she had spontaneous elevation of her left upper lid and resolution of her diplopia over the course of one day. Spontaneous improvement of a neurologic deficit is generally considered evidence against an underlying tumor; however, it should not rule out the possibility that a tumor is present.
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PMID:Here today ... gone tomorrow. 910 72

A 42-year-old man noted pain on the left side of his forehead and left ptosis. On examination, he showed conjunctival hyperemia, ptosis and miosis in the left side, as well as hyperesthesia in the first branch of left trigeminal nerve. An MRI of his brain showed a retension cyst in the left ethmoid sinus. There was neither abnormalities in the parasellar lesion nor in the neck. We diagnosed him with pericarotid syndrome rather than cluster headache or Raeder syndrome. Five cases who had paranasal sinus lesions as a cause of cluster headache or Raeder syndrome have been reported. More cases are needed to clarify the association of retension cyst in ethmoid sinus and pericarotid syndrome.
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PMID:[A case of pericarotid syndrome with retention cyst in ethmoid sinus]. 1082 99

A 42-year-old man complained of severe left orbital pain for 7 months. The diagnosis of cluster headache was made on the basis of diagnostic criteria formed by the International Headache Society. Sumatriptan was effective in relieving pain to a certain degree, but the frequency of the occurrence of pain gradually increased. Subsequently, he presented sensory disturbances in the left trigeminal nerve, and was admitted to our hospital. On admission, his neurological examination revealed left miosis and paresthesia in the first branch of the left trigeminal nerve. Neither anhidrosis nor ptosis was noted. His autonomic failure was consistent with post-synaptic disturbance as determined by pharmacological analysis for pupil's function. On the basis of the unique combination of neurological sings and symptoms including the unilateral headache, partial Horner's syndrome, and V1 sensory disturbance, we diagnosed him as having Raeder's syndrome. To exclude the possibility of a lesion in the Gasser ganglion of the middle fossa of the cranium or carotid artery causing symptomatic Raeder's syndrome, imaging studies including brain MRI, cervical MRA, and Doppler ultrasonography were performed, which revealed normal findings. We started him on oral prednisolone at 1 mg/kg once a day, which resulted in a rapid and dramatic suppression of pain. Thus, this case showed a progression from cluster headache to idiopathic Raeder's syndrome, which suggests that these two disorders might share common pathological and anatomical lesions.
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PMID:[Progression of cluster headache to Raeder's syndrome with marked response to corticosteroid therapy: a case report]. 1591 3

A 42-year-old woman received a 6-month course of simvastatin (20 mg/d) for hypercholesterolemia. Despite an infection with fever, fatigue, myalgias, and lumbar pain, she continued to perform her regular sports activities. Neurologic examination revealed bilateral ptosis and slight upper limb weakness. Serum creatine kinase was 41,000 U/L. Needle electromyography was nonspecifically abnormal. Discontinuation of simvastatin and reduction of the sports activities was followed by a prompt continual lowering of the elevated muscle enzymes to normal values over a 2-week period. The patient's infection, regular sports activity despite the infection, and a suspected mitochondrial defect were regarded as triggers of rhabdomyolysis.
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PMID:Rhabdomyolysis from Simvastatin triggered by infection and muscle exertion. 1663 54

A 42-year-old man presented with a three-day history of progressive bilateral blurred vision, photophobia and headaches. There was no history of trauma. He was emmetropic with visual acuity of 6/60 (pinhole 6/24) in both eyes, no ptosis and full range of eye movements. His pupils were in fixed mydriasis. The pupils were unreactive to light or accommodation. His optic discs and fundi were normal. Pilocarpine failed to constrict his pupils. Initially, he strongly denied using any topical ocular medications but later remembered that 10 days previously his eyes had felt 'gritty' and his wife had instilled their son's old atropine penalisation drops into both his eyes. His signs and symptoms had resolved over the next two days.
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PMID:A case of accidental mydriasis. 1731 76

A 42-year-old woman suddenly developed weakness in her left extremities when stretching her neck two days after the onset of a nuchal pain. Because computed tomography (CT) of the brain did not show any apparent lesion, the patient had initially been treated as having a cerebral infarction until magnetic resonance imaging (MRI) of the cervical spine revealed a presence of a cervical epidural hematoma the next day. She was therefore transferred to our hospital, and a neurological examination showed moderate left hemiparesis, dissociated sensory loss under C6 on the right side, urinary incontinence, and left miosis and ptosis. A CT of the cervical spine demonstrated an anteriorly located left-sided epidural hematoma extending from C4 to C7. The T2-weighted MRI revealed hyperintense lesions around the gray matter on the left side that were compressed by the epidural hematoma. The patient underwent an emergent laminoplasty from C3 to C7. Although her neurological signs were consistent with Brown-Sequard syndrome, which was associated with left-sided Homer's sign, they gradually and completely subsided following surgery. The authors therefore emphasize that cervical lesions should be considered in the differential diagnosis in patients with acute onset of hemiparesis.
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PMID:[Spontaneous cervical epidural hematoma presenting with hemiparesis following neck extension: a case report]. 1870 May 37

Rosai-Dorfman disease is a rare benign idiopathic histioproliferative disorder usually manifesting as massive painless adenopathy. Extranodal involvement of the Central Nervous System (CNS) mimicking a skull base meningioma is rare. A 42-year-old male presented with painless, progressive left visual loss of 4 months duration. Clinically, he had a left ptosis, proptosis and ophthalmoplegia. Magnetic Resonance Imaging (MRI) of the brain with gadolinium revealed a destructive lesion of the left orbital apex, middle cranial fossa and cavernous sinus. He was treated with corticosteroids and underwent debulking. Pathology showed inflammatory infiltrate in the absence of an infectious agent, emperipolesis and a positive S100 stain was consistent with Rosai-Dorfman disease. As there was no improvement following steroids and debulking, he underwent radiation therapy with significant improvement of his symptoms. Although a rare entity, Rosai-Dorfman disease should be considered in the differential of a skull base lesion.
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PMID:Rosai-Dorfman disease manifesting as intracranial and intraorbital lesion. 1902 Aug 7


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