Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a nine-month'old girl with septo-optic dysplasia is reported. The patient suffered in neonatal life from severe hypoglycemia, conjugated hyperbilirubinemia and nystagmus. At the age of 2 months ophthalmological examination revealed bilateral optic nerve hypoplasia; at the age of 9 months endocrinological investigations showed GH and ACTH deficiency and substitutive hormone therapy was started. MRI scans demonstrated dilatation of ventricles and pituitary ectopia. At the age of 27 months hypothyroidism due to TSH deficiency developed. The auxological and neurological follow-up is reported. The importance of direct ophthalmoscopy of the optic nerve in neonatal age is stressed: an early diagnosis can favourably influence the outcome of the disease.
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PMID:Early-onset of septo-optic dysplasia. A case report with follow-up. 1186 67