PMID: 2122428Sep 1, 1990Paper

Central cretinism in four successive siblings

Postgraduate Medical Journal
Uche P IsicheiJ O Egbuta

Abstract

A study of four successive siblings, age 9, 12, 14 and 16 years with cretinism associated with congenitial central hypothyroidism (central cretinism), born to a mother in the endemic goitre region of the Jos Plateau, Nigeria, is presented. Biochemically, the defects were characterized by abnormally low basal thyroxine, triiodothyronine and thyroid stimulating hormone, as well as refractory TSH response to thyrotrophin releasing hormone and gross hyperlipidaemia. Clinically, the intellectual, physical and neurological impairment varied from moderate in the youngest to very severe in the oldest. Contrasting clinical pictures of cretinism, which appeared related to age and previous treatment were found with a spectrum ranging from predominantly myxoedematous in the youngest to predominantly neurological in the 16 year old male. Response to adequate treatment was dramatic, with restoration of severe gait disturbance occurring almost completely, but the imprints of thyroid hormone deficiency on mental defects and intellectual performance remained almost unaltered. The parents and two older sisters were normal with normal thyroid function.

References

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Citations

Sep 1, 2007·Indian Journal of Clinical Biochemistry : IJCB·Santosh C DasUche P Isichei
Nov 15, 1993·Clinica Chimica Acta; International Journal of Clinical Chemistry·S C Das, U P Isichei
Oct 14, 2004·Annals of Tropical Paediatrics·S C DasA Z Mohammed

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