Multiple neonatal endocrinopathies in McCune-Albright syndrome.
Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder.
Bareille
P
P
Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.
Azcona
C
C
Stanhope
R
R
D017668:Age of Onset; D003480:Cushing Syndrome / Q000150:complications / Q000209:etiology* / Q000628:therapy; D005183:Failure to Thrive / Q000209:etiology*; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D006849:Hydrocephalus / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D009397:Nephrocalcinosis / Q000150:complications; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications