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A 17-yr-old Division I-AA collegiate offensive lineman developed unilateral ptosis shortly after minor head trauma during a scrimmage. The subsequent temporal profile of the ptosis, a history of a similar event lasting a short period of time 2 yr earlier, and the results of his clinical and electrophysiologic examinations established a diagnosis of very mild, generalized, antibody-negative myasthenia gravis (MG). His desire to continue playing football posed several additional management problems for which there was no published guidance. We started him on alternate-day, high-dose prednisone therapy with potassium and calcium supplementation, and allowed him to partake in conditioning but no contact. Except for residual decreased exercise tolerance, he improved symptomatically and experienced no serious adverse effects from the illness or the treatment during his first season, despite imperfect drug compliance. His MG eventually came under excellent symptomatic control, allowing initiation of a slow taper of the prednisone before his second season. Shortly thereafter, he abruptly stopped the prednisone without seeking medical advice. He continued to experience mild left ptosis and a mild decrease in intense exercise tolerance. He decided to forego his senior season of collegiate football after a bout of severe mechanical low-back pain incurred during spring football practice and limited his athletic activity thereafter to recreational sports.
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PMID:Myasthenia gravis in a collegiate football player. 1112 38

The Kearns-Sayre (K-S) syndrome which includes the triad of progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was first described in 1958. The mitochondria disorder is believed to be the cause of this syndrome. Involvement of the cardiac conduction system is the most importent prognostic factor in K-S syndrome. A 34-year-old male K-S syndrome patient, manifesting as ptosis and weakness of limbs since the age of 15 years, suffered from dizziness and weakness. Twelve-lead eletrocardiography (ECG) showed a 2:1 atrioventricular (AV) block with slow ventricular rate. Intermittent complete AV block, complete left bundle branch block and torsades de pointes were noted in Holter ECG. The electrophysiology study demonstrated prolonged HV interval (85 ms) on conduction beat and infra-His block on non-conduction beat. A VVIR mode of permanent pacemaker was implanted and the patient's condition was stable during this period of follow-up.
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PMID:Atrioventricular block in Kearns-Sayre syndrome: a case report. 1155 73

The male proband reported here was born with appropriate anthropometric parameters at term as the second child of healthy nonconsanguineous parents. His only clinical symptom was bilateral congenital cataracts with strabismus at birth, and both lenses were removed surgically at the age of 8 months. The perinatal and infantile period thereafter was clinically uneventful and his psychomotor development appeared almost normal. At the age of 6 years he was hospitalized for slight muscle weakness, minor ptosis, nystagmus and decreased physical activity. Soon after, his general condition worsened, gait ataxia presented, dysphagia and difficulty of speech followed by rapidly progressive generalized ataxia, and myopathy developed. Typical progressive gray matter degeneration with focal necrosis in the basal ganglia characteristic of the Leigh type of neuropathology could be detected by cranial MRI, the muscle histology showed ragged-red fibers. At the age of 7.5 years, unexpected left side hemiparesis with speech disability resembling that seen in MELAS syndrome developed, from which he recovered within 1.5 days. The mtDNA of the patient showed single 6.7 kb large-scale deletion harboring between 7817 and 14 536 bp. This case represents the first report of a verified mtDNA mutation associated with congenital cataracts as the first clinical sign of a later developing progressive neuromuscular disease presented with a combination of Leigh neuropathology, ragged-red fiber histopathology and stroke-like attack.
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PMID:Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion. 1273 42

Garcin syndrome is characterized by an unilateral cranial nerves involvement without sensory or motor long-tract disturbances. It is usually caused by tumor infiltrating in the skull base with osteolytic changes on radiological study. We report a case of 64-year-old man with history of alcohol overintake, who admitted local hospital, because of right periorbital edema and facial swelling. He noted right ptosis 2 weeks prior to admission. Neurological examination revealed right multiple cranial nerves involvement including II, III, IV, V, and VI cranial nerves. MR imaging of the brain showed marked paranasal sinusitis and abnormal infiltration of right orbital fat. Orbital apex syndrome related to paranasal sinusitis was diagnosed, and antibiotics was administered. But a few days after admission, he developed a right VII, IX, X cranial nerve palsy. He was transferred to our hospital because of acute development of left hemiparesis and deteriorated consciousness. MR imaging of the brain showed right internal carotid artery (ICA) occlusion, and infarction in right middle cerebral artery (MCA)'s territory. The diagnostic biopsy of the paranasal sinus showed mucorales hyphae, indicating that the pathological diagnosis was mucormycosis. Despite of antibiotic therapy included of amphotericin-B administration and strict control of diabetic mellitus, his sinusitis was gradually spread. His condition progressively deteriorated, and finally died of sepsis. Post-mortem examination revealed a widespread mucor infiltration in the dura mater without skull bone invasion. This case presented with unilateral multiple cranial nerve involvements (Garcin syndrome) followed by left hemiparesis associated with rhinocerebral mucormycosis. It is suggested that mucormycosis should be considered in case of Garcin syndrome without osteolysis in the skull base.
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PMID:[Garcin syndrome in a patient with rhinocerebral mucormycosis]. 1511 47

A 32-year-old man with Marfan syndrome was admitted to our hospital for detail examination of congestive heart failure. Doppler echocardiography showed severe mitral regurgitation due to prolapse of posterior mitral leaflet. Annuloaortic ectasia without aortic regurgitation was also detected by aortography. Considering the future operative need for aortic root and ascending aorta, we performed mitral valve replacement with a mechanical valve and preventive concomitant aortic root replacement with a composite valve graft. His postoperative course was uneventful. Optimal surgical treatment of mitral regurgitation and annuloaortic ectasia in Marfan syndrome is controversial because the underlying connective tissue defect theoretically might compromise repair durability. Several surgical options for mitral regurgitation and annuloaortic ectasia in Marfan syndrome are discussed.
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PMID:[One-staged operation for mitral regurgitation and annuloaortic ectasia without aortic regurgitation with Marfan syndrome; report of a case]. 1515 Oct 37

Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature.
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PMID:Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. 1536 14

Five patients presented with eyelid drooping (blepharoptosis). A 26-year-old man with oculomotor disorders without anisocoria and a slow progressive course without fluctuations had a myogenic condition. His diplopia was alleviated by prism glasses. Surgical correction of the ptosis was planned. An 81-year-old man in whom the symptoms showed a course that varied over time had a disordered neuromuscular transmission that responded well to pyridostigmine. A 57-year-old man with oculomotor disorders and a dilated pupil on the affected side had an injury to the oculomotor nerve (and other cranial nerves), which remained stable after endovascular treatment of the causative aneurysm. A 22-year-old man had a constricted pupil (Horner's syndrome) and pain in the head and neck due to dissection of the internal carotid; his symptoms disappeared spontaneously. A 34-year-old woman had an isolated ptosis due to detachment of the aponeurosis of the M. levator palpebrae superioris following the chronic use of hard contact lenses; she was advised as to how to remove the lenses cautiously, to prevent further detachment. Eyelid drooping can have many causes. A systematic arrangement of the information gathered by a careful medical history and neurological examination often provides a reasonably accurate indication of the possible causes of the complaints.
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PMID:[Eyelid drooping: diagnosis on the basis of an algorithm]. 1549 36

This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.
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PMID:Costello syndrome showing moyamoya-like vasculopathy. 1586 41

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

We report an 8-year-old child with branchio-oculo-facial syndrome. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized.
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PMID:Branchio-oculo-facial syndrome with the atresia of external ear. 1593 29


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