Idiopathic arterial calcification of infancy: a case report.

The first case of idiopathic arterial calcification of infancy in a 7-month-old Thai infant was reported. The patient succumbed to cardiogenic shock. Widespread fragmentation and calcification of internal elastic lamina accompanied by intimal fibroblastic thickening involved mainly medium-sized muscular arteries accompanied by intimal fibroblastic thickening were noted. Coronary involvement was the most prominent and myocardial infarction resulted. Various possible etiologic factors noted in the literature were discussed.

Zellweger syndrome: first reported case in Thailand and literature review.

We describe an infant boy with facial dysmorphism, profound hypotonia, psychomotor retardation, seizure and hepatomegaly. Biochemical study revealed elevation of very long chain fatty acids and pipecolic acid, consistent with peroxisomal disorder. He died at the age of 4 months. Electron microscopic study demonstrated decreased amounts of peroxisomes in liver and kidneys. The clinical characteristic, accompanied the biochemical and microscopic findings led to the diagnosis of Zellweger syndrome. The recognition of this syndrome is important since it is a fatal disease. The pattern of inheritance is autosomal recessive, hence genetic counseling is necessary. We emphasize that peroxisomal disorder should be included in the differential diagnosis in patients with infantile hypotonia. This patient is the first reported case of Zellweger syndrome in Thailand.

Multiple endocrine neoplasia type IIb: a case report.

We reported a 14-year-old boy who had had multiple thyroid nodules for 4 yrs. Physical examination revealed marfanoid habitus, coarse facies with thick lips and prominent jaw. Mucosal neuromas were present on the buccal mucosa, tongue and upper eyelids. Thyroid scan demonstrated multiple, cold nodules and medullary thyroid carcinoma was confirmed by pathological examination. He was normotensive and his 24 hrs urinary vanillyl mandelic acid was in the normal range. Computerized tomography demonstrated normal adrenal glands. Multiple endocrine neoplasia type IIb (MEN IIb) was diagnosed by the appearance of typical phenotypic features, multiple mucosal neuromas and medullary thyroid carcinoma. The scarcity of such reports in children and the importance of early recognition of this disorder prompted us to describe this patient.

Niemann-Pick disease: a case report.

The second case of infantile Niemann-Pick disease was reported in a Thai newborn baby who presented with respiratory distress and hepatosplenomegaly from birth and who succumbed from bronchopneumonia 20 days later. Autopsy examination showed generalized accumulation of foam cells in reticuloendothelial organs. The parenchymal cells of visceral organs as well as neurones in the central nervous system also showed cytoplasmic vacuolization. Electron microscopic study demonstrated characteristic intracytoplasmic electron-lucent membrane-bound bodies. The histologic and ultrastructural findings were similar to those described in the literature.