Assuntos
Doenças Ósseas Metabólicas , Idoso , Densidade Óssea , Humanos , Fatores de Risco , UltrassonografiaRESUMO
Dyskeratosis Congenita (DKC) is a rare progressive bone marrow disorder associated with multi-systemic involvement. It is also characterized by triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Liver cirrhosis and portal hypertension are said to be uncommon among these patients. We hereby report a case of an adult male who presented with pancytopenia, abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Skin biopsies along with clinical features confirmed the case. Imaging studies were reported as suggestive of and portal hypertension. Liver biopsy done but non-conclusive. Patient's one son and one daughter also had similar skin pigmentation.
Assuntos
Disceratose Congênita/complicações , Disceratose Congênita/diagnóstico , Hipertensão Portal/complicações , Veias Jugulares/diagnóstico por imagem , Adulto , Biópsia , Humanos , Hipertensão Portal/diagnóstico , Leucoplasia Oral/complicações , Leucoplasia Oral/patologia , Fígado/patologia , Masculino , Doenças da Unha/complicações , Pancitopenia/complicações , Pele/patologia , UltrassonografiaRESUMO
Here we report a case of VACTERL ASSOCIATION in a twenty three years old married female patient primigravida with 3 months of amenorrhea admitted with history of fever and gastroenteritis along with congenital developmental defects such as scoliosis (V), small ventricular septal defect (C), right sided hemifacial dysmorphic features (right mandibular hypoplasia), small sized right sided kidney (R), bilateral hypoplastic thumb (L). For the diagnosis of VACTERL atleast three out of seven anomalies should be present while our patient had four anomalies.
Assuntos
Anormalidades Múltiplas/diagnóstico , Cardiopatias Congênitas/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Complicações na Gravidez/diagnóstico , Amenorreia/etiologia , Canal Anal/anormalidades , Canal Anal/patologia , Ecocardiografia , Eletrocardiografia , Esôfago/anormalidades , Esôfago/patologia , Feminino , Cardiopatias Congênitas/patologia , Humanos , Rim/anormalidades , Rim/patologia , Deformidades Congênitas dos Membros/patologia , Gravidez , Complicações na Gravidez/patologia , Segundo Trimestre da Gravidez , Coluna Vertebral/anormalidades , Coluna Vertebral/patologia , Traqueia/anormalidades , Traqueia/patologia , Resultado do Tratamento , Adulto JovemRESUMO
Nephrotic syndrome, though common in children, association of it with Gitelman's syndrome (GS) is a rare occurrence. Very few cases have been reported in the medical literature so far. Here we report a case of nephrotic syndrome with frequent relapses and remissions on intermittent steroid and diuretic therapy. Patient was restarted on steroids and frusemide. Puffiness of face, bipedal edema and oliguria improved but patient developed tingling numbness in both limbs, perioral numbness and carpopedal spasm. On investigation she was found to have proteinuria, metabolic alkalosis, hypokalemia, hypocalcemia, hypomagnesemia and hyperreninemia with normal blood pressure.
