Background: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of clinical entities caused by a defect in the peripheral action of parathyroid hormone (PTH). Biochemically it manifests itself with hypocalcemia, hyperphosphatemia and elevated PTH. PHP-Ia is the most frequent and multiple hormone resistance, associated signs of Albright hereditary osteodisfrofia (OHA) and mutations in the gene encoding GNAS Gsa protein.
Case presentation: 6 years old male suffering an episode of ataxia, incoordination and slowing. Familiy history: mother with short stature, normal phenotype. Personal history: preterm with normal birth weight. Neonatally presented hypoglycemia, early jaundice and congenital hypothyroidism, starting levothyroxine in the third week of life. Evolution: euthyroid with replacement therapy; rough phenotype, obesity and macrocephaly, brachydactyly, psychomotor retardation. At 5 1/2 years diagnosed possible benign childhood epilepsy. At age 6, episode of ataxia, incoordination and slowing. Highlights: Ca 4.6 mg/dl (ionic 0.67 mmol/l), P 10.8 mg/dl, Mg 1.3 mg/dl, i PTH 689 pg/ml, calciuria 0, fosfaturia high. Radiologically, bone hyperlucency, thinned cortical and correlation with chronological age. For suspected PHP1A by metabolic disorders and OHA phenotype initiates calcium and calcitriol therapy. The genetic study, showed deletion of 4 nucleotides in heterozygosity in exon 10 (c.568_571 of) the GNAS1 gene (20q13.2 Cr). Mother heterozygous carrier of the mutation, de novo.
Conclusions: i) In a child with seizures or acute neurological symptoms, metabolic disorders should be ruled out. These may be responsible for a pathological EEG recording, as in our patient; EEG and clinical standards normalize when calcium and phosphorus metabolism. ii) In the PHP-IA various alterations in the GNAS locus determine variable phenotypes, and possibly combined with other hormones so these patients should be screened globally resistance. Our patient presented Albright phenotype and resistance to PTH and TSH.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology