Abstract
A 2½ y.o. girl with AIDS and growth failure was found to have widely separated sutures and open fontanels. AIDS was diagnosed at age 6 mos. Growth has been 3SD below the mean for ht. and wt., with head circumference at the 0-5%. Dentition was intact with 16 teeth present.Serum calcium (Ca) was 7.2-9.6 mg/dl, inorganic phosphorous was 3.4-6.4 mg/dl, and alkaline phosphatase (AP)was 51-102IU (nl:146-477). Total protein was 9.0-12.8 mg/dl; albumin was 2.6-3.7 mg/dl. Endocrine studies revealed:ionized Ca, 5.2 (nl:4.6-5.4 mg/dl);C-Terminal PTH, 109 pg/ml (nl:50-330 pg/ mg);Vit D25, 19ng/ml (nl:9-52);Vit D1-25, 66 pg/ml (nl:15-60) and TSH, 4.3 uu/ml (nl: 5.0). After TRH, TSU rose from 4.3-43.0 uu/ml (60 min) and GH peaked, paradoxically, at 30 min (6.0 ng/ml). Urinary phosphoethanolamine (PE) was 1 MCM/24hr (nl:26-101). Radiographic studies showed:BA 1½ yrs. vs. CA 2½ yrs, poorly formed skull bones, typical of hypophosphatasia and osteoporotic long bones without rickitic changes or metaphyseal defects. Good permanent teeth formation was present. Mother also had delayed fontanel closure, but she and three uneffected half-sibs were unavailable for study. Our patient has many features of hypophosphatasia with low serum AP and poor cranial bone formation. However, the absence of high total serum Ca, high urinary PE, poorly formed dentition and rickitic bony changes, usually seen in hypophosphatasia, might be explained by the poor growth caused by AIDS. Her clinical manifestations is best explained by a combination of AIDS and hypophosphatasia.
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Wu, R., Haseltine, B., Burrowes, A. et al. POOR CRANIAL CALCIFICATION AND POSSIBLE HYPOPHOSPHATASIA IN A GIRL WITH AIDS. Pediatr Res 21 (Suppl 4), 338 (1987). https://doi.org/10.1203/00006450-198704010-01024
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DOI: https://doi.org/10.1203/00006450-198704010-01024