Abstract
We report the case of a 9-year-old girl with multiple problems due to hypothalamic dysfunction of obscure origin: apnoeic spells, behavioural problems, developmental delay, hypodipsia with bouts of hypernatraemia, episodes of spontaneous hypothermia, obesity, petit-mal seizures, non-progressive precocious puberty, absence of respiratory response to CO2 and probably insensitivity of hyposensitivity to pain. She also had hyperprolactinaemia and decreased human growth hormone secretion. Hypothyroidism of central origin and hyposecretion of cortisol were also present. Multiple brain CT-scans failed to reveal any tumour or other anatomical abnormality. Her clinical course was improved initially by treatment with clomipramine, but she died suddenly, and the autopsy failed to disclose any anatomical lesion. We compare this case with three similar previously reported cases.
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Abbreviations
- ACTH:
-
adrenocorticotropin
- ADH:
-
antidiuretic hormone; E2-oestradiol
- FSH:
-
follicle stimulating hormone
- HGH:
-
human growth hormone
- LH:
-
luteinizing hormone
- T4 :
-
thyroxine
- TSH:
-
thyroid stimulating hormone
References
Dunger DB, Leonard JC, Wolff OH, Preece MA (1980) Effect of naloxone in a previously undescribed hypothalamic syndrome. Lancet I:1277–1281
Gurewitz R, Blum I, Lavie P, et al (1986) Recurrent hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia and growth hormone deficiency in a boy: treatment with clomipramine (abstract). Acta Endocrinol 279 [Suppl]:468–472
Schaad U, Vassella F, Zuppinger K, Oetliker O (1979) Hypodipsia-hyponatremia syndrome. Helv Paediatr Acta 34:63–76
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Proulx, F., Weber, M.L., Collu, R. et al. Hypothalamic dysfunction in a child: A distinct syndrome?. Eur J Pediatr 152, 526–529 (1993). https://doi.org/10.1007/BF01955066
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DOI: https://doi.org/10.1007/BF01955066