hypertrichosis/astenia

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[Skin pigmentation deposits, hypertrichosis of the forearms and thighs, arthralgia of the knee, edema of the posterior of the legs, bloating, muscular atrophy and general weakness (bone radiography)--craniotomy for the treatment of arachnoiditis of the optic chiasm: (multiple myeloma)].

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A man with worsening weakness.

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The contemporary presence of organomegaly, skin manifestations, polyneuropathy, endocrinopathy and monoclonal component characterises the POEMS syndrome, often associated with osteosclerotic myeloma and Castelman's disease and more frequent in the Japanese. Clinical manifestations seem to be related

POEMS syndrome presentation with progressive weakness in upper and lower limbs: A case report.

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Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS) syndrome is a rare variant of plasma cell disorders with multiple systemic manifestations. A 50-year-old female patient presented with progressive weakness in her upper and lower limbs; tingling, numbness and burning

[A case of Crow-Fukase syndrome which developed seven years following myelopathy of unknown origin].

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A rare case of Crow-Fukase syndrome was reported, which developed 7 years following myelopathy of unknown origin. In September 1983, a 31-year-old man came to our department for progressive gait disturbance and numbness in both lower extremities. Examination on admission showed hyperreflexia with

Facial Dysmorphism, Hirsutism, and Failure to Thrive as Manifestation of Leigh Syndrome in a Child with SURF1 Mutation

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Leigh syndrome (or subacute necrotizing encephalomyelopathy) is a rare neurodegenerative disorder characterized by psychomotor retardation or regression, typically occurring in stepwise decrements. Onset is typically between ages 3 and 12 months. Neurological manifestations include hypotonia,

Low-dose cyclosporin therapy of ocular inflammation: preliminary report of a long-term follow-up study.

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Cyclosporin A (CsA) is an effective therapy for severe intraocular inflammation but nephrotoxicity and hypertension are major side effects even in low dose in combination with oral corticosteroids and clinical studies on the long-term effects of low-dose CsA therapy outside the field of organ

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

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Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies. The syndrome was

Split cord malformations: an experience of 203 cases.

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METHODS A total of 203 patients with split cord malformation (SCM) were operated on at our centre between March 1989 and October 2003. Patients' demographic profile, radiological and operative details, complications and surgical outcome were evaluated retrospectively. RESULTS The mean age of the

POEMS syndrome with peripheral and central nervous system demyelination: case report.

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BACKGROUND POEMS syndrome is a rare, atypical plasma cell proliferative disorder. Predominantly motor chronic demyelinating polyneuropathy and monoclonal plasma cell disease are the major clinical features of POEMS syndrome. Demyelinating lesions of the central nervous system have been reported only

[Reflex sympathetic dystrophy secondary to lumbar disk herniation].

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A 26-year-old woman noticed discoloration and swelling of the left foot after standing or sitting for a long period of time. Four months later, she developed dysesthesia in the left leg and foot and extreme tenderness of the left foot; developed subsequently claudication. At age 15, the patient had

[A case of anaphylactoid shock occurring immediately after the initiation of second intravenous administration of high-dose immunoglobulin (IVIg) in a patient with Crow-Fukase syndrome].

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We report a case of anaphylactoid shock occurring immediately after the initiation of second intravenous administration of high-dose immunoglobulin (IVIg) in a patient with Crow-Fukase syndrome. The patient was a 57-year-old woman, who was admitted to our hospital because of numbness and muscle

Skin lesions of the spinal axis and spinal dysraphism. Fifteen cases and a review of the literature.

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OBJECTIVE To catalog the paraspinal skin lesions of early childhood that are associated with occult spinal dysraphism. METHODS Retrospective review of a series of patients. METHODS Tertiary care referral center. METHODS Fifteen patients who had significant paraspinal skin lesions were identified

[Tethered cord syndrome in the adult].

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BACKGROUND The tethered cord syndrome (TCS) is a congenital malformation with a pathologic fixation of the spinal cord in the spinal canal. It presents clinically as musculoskeletal, cutaneous, urological and neurological manifestations. The diagnosis is based on the clinical manifestations and on

Congenital lumbosacral lipomas presenting as a form of occult spinal dysraphism. A report of 9 surgically treated cases.

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Nine cases of congenital lumbosacral lipoma have been diagnosed and treated surgically at the Hacettepe University School of Medicine, Department of Neurosurgery during the last 16 years. Five patients were male and four female with ages ranging from 18 months to 30 years. The most frequent

Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome.

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Cornelia de Lange syndrome is a rare congenital disorder. Symptoms include a characteristic facial structure, pre- and post-natal growth deficiency, hypertrichosis, and visceral and cardiovascular anomalies. Behavioural problems and moderate to severe mental retardation are also present. In this

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