Neonatal pseudohypoparathyroidism.

The case of a neonate is presented who had early onset seizure associated with hypocalcemia, hyperphosphatemia, and raised parathyroid hormone. The infant did not have any stigmata of pseudohypoparathyroidism. The hypocalcemia was initially resistant to calcium therapy, but responded to vitamin D analog therapy. The diagnosis of 'neonatal pseudohypoparathyroidism' was entertained; the infant remained stable and seizure-free with normal serum biochemistry during 3 months of follow-up.

Humerus Varus in a Patient with Pseudohypoparathyroidism

A 7-yr-old girl presented with progressive shortening of the right upper arm and limitation of shoulder motion. Pseudohypoparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed by biochemical, hormonal and radiographic studies. Her condition was complicated by severe humerus varus on the right side. Proximal humeral valgization osteotomy and concomitant humeral lengthening resulted in an improvement of the shoulder joint motion and activity in daily life.

Pseudohypoparathyroidism presenting with bony deformities resembling rickets.

Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets. The authors report two siblings with clinical and radiological features suggestive of rickets unresponsive to treatment with vitamin D. Low serum calcium, elevated serum phosphate, normal renal functions, raised tubular maximum of phosphate and high serum parathormone were suggestive of PHP. Treatment with 1-hydroxyvitamin D and calcium carbonate led to decrease in bone pain, increase in height and weight and resolution of radiological features. PHP should be suspected in patients with bony deformities, hypocalcemia, elevated blood phosphate levels and normal renal functions.

Pseudohypoparathyroidism with systemic lupus erythematosus.

A female patient with short stature, of systemic lupus erythematosis and hypocalcemia presented to us. On examination and investigations she was found to be a case of Type Ia pseudohypoparathyroidism. The patient's quality of life improved after appropriate treatment. The case is a rare combination of two disorders.

Psedohypoparathyroidism in newborn - a rare presentation.

A 7-day-old male baby was referred with history of persistent multifocal convulsions from second day of life. He was found to have hypocalcemia, hyperphosphatemia, normal serum magnesium and normal renal function tests. Serum parathormone was found to be elevated. Baby was diagnosed as case of pseudohypoparathyroidism and was treated with calcium supplementation and calcitriol. At 9 months he was asymptomatic on treatment, with normal serum calcium and phosphorus.

Psoríase e pseudo-hipoparatireoidismo / Psoriasis and pseudohypoparathyroidism

Relato de caso clínico de paciente do sexo masculino, de 24 anos de idade, com psoríase pustulosa havia dois meses. Apresentava antecedentes de crises convulsivas e retardo do desenvolvimento neuropsicomotor. Ao exame físico o sinal de Trousseau foi positivo, e a dosagem de cálcio no soro estava acentuadamente diminuída. O diagnóstico foi de psoríase pustulosa generalisada associada a pseudo-hipoparatireoidismo. Inicialmente o paciente foi tratado com etretinato, sem controle do quadro; porém, com detecçäo da hipocalcemia e a reposiçäo do cálcio, houve melhora acentuada das lesöes cutâneas. A remissäo completa foi obtida com a correçäo da hipocalcemia. Esses resultados indicam que a hipocalcemia estava diretamente relacionada com a manutençäo das lesöes de psoríase pustulosa generalizada e pseudo-hipoparatireoidismo

Pseudohipoparatiroidismo y cardiomiopatía hipocalcémica / Pseudohypoparathyroidism an hypocalcemic myocardiopathy

Se presenta un caso de pseudohipoparatiroidismo complicado con una cardiomiopatía hipocalcémica y un síndrome convulsivo. En el momento del diagnóstico, los hechos más destacados fueron: rasgos fenotípicos característicos, cardiomegalia radiológica, alteraciones electrocardiográficas compatibles con hipocalcemia, osteoporosis generalizada y calcificaciones de tejidos blandos en la radiografía de esqueleto, calcio plasmático 4,53 mg% y fosfato plasmático 7,7mg%. En respuesta al tratamiento con vitamina D3, gluconato de calcio, hidróxido de aluminio, acetildigitoxina, hidroclorotiazida, y con un régimen pobre en fosfatos, se obtuvo una mejoría progresiva del calcio y fósforo plamáticos, junto con la normalización de la silueta cardíaca y del trazado electrocardiográfico