Abstract
Identical twin-sisters (born at 36 wks; birthweight 2.2 and 3.0 kg) presented at 2 years of age with marked psychomotor retardation and bone-age of 1 year. Physical growth and phenotype were normal. Repeated investigations revealed: markedly fluctuating basal serum prolactin (778-5652 μU/ml; nl < 800), FSH (17-55 mIU/ml; nl < 10) and GH (2-144 ng/ml; nl < 10), but normal LH; low TBG (1.1 and 1.2 mg/dl; nl 1.6-2.4) also present in the father, with otherwise normal thyroid function including TRH test, arylsulphatase A moderately increased in serum (mean 293 and 272 nmol/ml; nl 30-130) but not in leukocytes, without increase of other lysosomal enzymes, and increasing CSF protein. Normal results were found for GH response to i.m. glucagon, urinary excretion of 17-keto and 17-hydroxysteroids, at funduscopy and for lymphocyte karyotype (Giemsa banding), buffy coat of blood leukocytes and electronmicroscopy of conjunctiva. Sella tursica was normal on x-ray. Cortical and cerebellar hypotrophy was evident on CAT-scan. Electromyography was normal but nerve conduction velocity was delayed (30-31 m/sec; nl 50 ± 1). A nerve and muscle biopsy is planned. At this stage we have no satisfactory explanation for these unusual findings.
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Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P. et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90. Pediatr Res 14, 179 (1980). https://doi.org/10.1203/00006450-198002000-00117
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DOI: https://doi.org/10.1203/00006450-198002000-00117
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