engleski

Pallister-Hall syndrome- a case report

INTRODUCTION: GLI3 gene plays role in sonic hedgehog signalling. Haploinsufficiency of GLI3 causes variable alterations in gene expression during development leading to autosomal dominant Pallister – Hall syndrome (PHS). Typical phenotype includes polydactyly with midline defects (imperforate anus, bifid epiglottis, panhypopituitarism, hypothalamic disorganization and hamartoma). CASE REPORT: We report on a boy born at term with birth weight 2870 g, birth length 47 cm and Apgar score 8, 8. Multiple congenital anomalies including palatoschisis, choanal stenosis, micropenis, cryptorchism, anal atresia and poly/syndactyly were observed at birth. He also had dysplastic right kidney and 11 ribs on left side. Initial diagnosis was VACTERL association. Recurrent hypoglycaemias prompted additional workup including brain MRI and verified hypothalamic hamartoma and ectopic posterior pituitary which led to diagnosis of PHS. Molecular testing proved heterozygous nonsense mutation in GLI3 gene (c.2437C>T, p.Gln813Ter). Two days after birth bipolar colostomy was formed. Substitution with growth hormone and levothyroxine were introduced at the age of two months leading to cessation of hypoglycaemias. At the age of one year anorectoplasty was performed. T-T anastomosis of colon was formed at the age of 2 years. On follow up visit at the age 2 years he is in overall good condition with moderate growth and developmental delay. CONCLUSION: PHS is a rare malformation syndrome with only about 100 reported cases worldwide. Because of phenotypic similarity in can easily be mistaken with VACTERL association. Precise molecular testing leads to early diagnosis, timely introduction of treatment and better outcome.

Hypothalamic hamartoma ; Pallister-Hall Syndrome ; Polydactyly ; Rare Diseases

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