PubMed · 3222510
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P Herskovic, A Harum, R González, A Moreno, G Venegas, S Asenjo, M Colombo, E Raimann. [Galactosemia].. https://pubmed.ncbi.nlm.nih.gov/3222510/
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An 18 months old boy presented with marked failure to thrive, abnormal facial grimacing and troublesome vomiting. The patient was diagnosed as having Schwartz syndrome with hiatal hernia. Medical and surgical treatment was carried out and with supportive care the patient gained weight and his symptoms subsided. In 8 months, however, the patient developed hernia on the other side necessitating repeat surgery. The case is being reported to highlight the accompaniment of hiatal hernia not previously reported as part of the syndrome and to report the experience of using muscle relaxants in the condition.
Galactosemia is a rare metabolic disorder. It has good prognosis, if detected in neonatal period or early infancy. Two cases of classic galactosemia are presented. One case was detected in neonatal period. Early intervention has led to normal development till now. The second case was diagnosed at 1 year of age. Elimination of milk from diet is quite simple and effective treatment modality.