ABSTRACT
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.
Subject(s)
Zellweger Syndrome/genetics , Fatal Outcome , Female , Genes, Recessive , Humans , Infant , Kidney/pathology , Kidney/ultrastructure , Liver/pathology , Liver/ultrastructure , Male , Microbodies/pathology , Pedigree , Thailand , Zellweger Syndrome/diagnosis , Zellweger Syndrome/pathologyABSTRACT
The clinical presentation of TSH-secreting pituitary adenoma in an 11-year-old boy is reported. Hyperthyroidism, signs and symptoms of increased intracranial pressure with the elevation of TSH, T3, T4 were the clues for suspecting this disorder. Bilateral carotid angiogram was performed which disclosed a suprasellar mass, and pituitary surgery was performed. Electron microscopic examination confirmed the diagnosis of TSH secreting pituitary tumor.
