keratitis/crise epiléptica

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Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?

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A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The

IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.

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Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,

IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.

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Descemetocele and bilateral, severe Pseudomonas keratitis in an intensive care unit patient with Graves' orbitopathy: A case report

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Rationale: Exposure keratopathy (EK) is common among intensive care unit (ICU) patients, especially those under sedation and with incomplete eyelid closure. EK can be mild punctate epithelial erosions exhibiting spontaneous recovery;

[A case of tyrosinemia type II with convulsion and EEG abnormality].

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A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and

Keratitis associated with multiple endocrine deficiency.

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OBJECTIVE To report an 8-year-old girl with bilateral progressive visual loss and photophobia secondary to stem cell deficiency as a result of multiple endocrine deficiency. METHODS A case report and review of medical literature. RESULTS The patient suffered from severe photophobia and decreased

[Dysautonomia. A clinical study of a case, ultrastructural data].

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We report a new case of non-familial dysautonomia. The patient was a boy with no known Jewish ancestry in whom psychomotor retardation in early infancy failed to lead to specialized evaluation. Regressive episodes of ataxia developed at the age of three and infrequent generalized seizures occurred

[Surgical correction of 34 patients with hypertelorism].

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In 34 patients with hypertelorism aged on the average 12.6 years, 24 underwent intracranial surgery (combined intra- and extracranial approach), 2 (moderate) U-osteotomy (subcranial approach), and 8 (mild) canthoplasties. Improved results were obtained in the patients with various types of

Spontaneous human herpes virus type 1 infection in a chinchilla (Chinchilla lanigera f. dom.).

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A 1-year-old male chinchilla with a 2-week history of conjunctivitis suffered subsequently from neurological signs comprising seizures, disorientation, recumbency and apathy. After 3 weeks of progressive central nervous disease the animal was killed in view of the poor prognosis. A non-suppurative

Neuropathologic features, including pontine schwannosis, in a four-year survivor of probable Reye's syndrome with secondary Möbius syndrome.

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Frequent seizures and loss of motor, language, and intellectual skills necessitated care in an institution for the physically and mentally handicapped for 4 years after diagnosis of presumed Reye's syndrome in a 10-month-old boy. M obius syndrome was diagnosed and bilateral tarsorrhaphy performed

Acanthamoebiasis in Korea: two new cases with clinical cases review.

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The first case was 7-month-old immunodeficiency girl in whom the diagnosis of Acanthamoeba pneumonia was established by culture of a bronchial washing. The patient had been ill for a month when she was admitted due to neonatal thrombocytopenia with respiratory difficulty and treated with

Headache classification and the Bible: Was St Paul's thorn in the flesh migraine?

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The conversion of Saul to Paul was a major event in the history of Western culture. Compared with its impact, any medical comments may seem redundant, but they have kept their place in the literature for many centuries. The flashing light that caused Saul to fall is often explained as solar

Surgical correction of hypertelorism. Report of 40 cases.

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Forty patients with hypertelorism seen in the past 16 years were reviewed retrospectively. Combined intra- and extracranial surgical approach was used for 37 severe and moderate cases and subcranial approach (U-osteotomy) for 3 moderate cases. Gratifying results were obtained in patients with

Epidural empyema secondary to orbital cellulitis: a case report.

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OBJECTIVE To report a case of epidural empyema, a rare complication of orbital cellulitis, underlining the importance of early diagnosis and appropriate therapy to avoid severe complications often associated with this disease. METHODS The treatment was initiated with extended spectrum antibiotics

Neurologic manifestations of Cogan syndrome.

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Cogan syndrome is a multisystem inflammatory vascular disease, characterized by nonsyphilitic interstitial keratitis and vestibuloauditory symptoms. Recent reports have directed attention to involvement of other organ systems. Respiratory, cardiovascular, gastrointestinal, and musculoskeletal

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