Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. It is an autosomal recessive osteochondrodysplasia, usually diagnosed at an early age with incidence estimated to be 1.7 per 1 million births. Pycnodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. The syndrome has been frequently reported in history. This article reports unusual ophthalmologic findings, conductive hearing loss due to suspected otosclerosis and sandal gap deformity in a Pycnodysostosis patient.

DS reduces the duration of diarrhea in Indian children and prevents a prolonged course, and therefore, may consistently reduce the costs in treatment of acute watery diarrhea.

Anemia in children may arise from a wide variety of pathogenetic mechanisms that include congenital and acquired disorders. Often the diagnostic considerations include disorders that are not seen commonly in adults and lifelong disorders that arise in children and persist throughout life. Consideration of diverse causes of anemia such as red cell membrane disorders, red cell enzymopathies, congenital dyserythropoietic anemias, congenital sideroblastic anemias, and hereditary pure red cell aplasia (Diamond-Blackfan anemia), as well as infectious causes such as parvovirus B19 infection, often is required when diagnosing anemia in an infant or young child. Knowledge of these entities that are important causes of anemia in the pediatric population, including clinical manifestations and laboratory workup, will aid in recognition of the specific disease entities and effective workup of pediatric red cell disorders. Inherited and acquired red cell disorders in children include a diverse group of disorders that include red cell enzyme disorders, red cell membrane disorders, congenital dyserythropoietic anemia, sideroblastic anemia, hemoglobinopathies, and red cell aplasias. Most of these disorders are manifested in the child by anemia with hypoproliferative or hemolytic mechanisms underpinning the development of anemia. Hypoproliferative anemia arises secondary to decreased overall RBC precursors or ineffective erythropoiesis, suggesting an abnormality in bone marrow production or erythroid precursors. Conversely, the anemia may be hemolytic in nature, reflecting abnormalities in RBC structure or biologic function that affect RBC life span and are associated with normal to increased erythropoiesis. Clinical manifestations, RBC characteristics, specific laboratory testing, and bone marrow findings are all useful in trying to classify the cause of the anemia and define a specific disease process. INTRODUCTION: Pure red cell aplasia (PRCA) is an uncommon disorder in which maturatio n arrest occurs in the formation of erythrocytes. Erythroblasts are virtually absent in bone marrow; however, WBC and platelet production is normal. The anemia due to PRCA is usually normocytic but can be macrocytic. In 1922, Kaznelson recognized that this condition was a different entity from aplastic anaemia, which presents with pancytopenia. The characteristics of PRCA include a severe anemia, a reticulocyte count of less than 1%, and the presence of less than 0.5% mature erythroblasts in the bone marrow. The bone marrow is usually normocellular. The etiology of PRCA is heterogeneous. A congenital form of PRCA was initially described by Joseph in 1936 and by Diamond and Blackfan in 1938. Congenital PRCA is a lifelong disorder and is associated with physical abnormalities. PRCA can be transient and reversible. Transient erythroblastopenia of childhood (TEC) can occur after viral infections. PRCA due to medications is also often reversible when these medications are discontinued. PRCA due to infections is often reversible. In adults, most cases ...

Background: In the newborn low platelet count is a common finding in both preterm and term newborn. It has been estimated that as many as 22% of all new borns admitted to NICU develop low platelet counts. A platelet count of less than 150,000/mL is defined as thrombocytopenia irrespective of the age of the individual.Methods: All the neonates underwent necessary blood investigations like Complete blood counts, (including platelet counts, HB estimation, Red cell indices and PCV), Capsular Polysaccharide - reactive protein. (CRP), Peripheral Smear study, Blood culture, BT, CT, PT, aPPT, Anti-platelet Antibodies.Results: The prevalence of thrombocytopenia in our study was 28%. The proportion of severe thrombocytopenia among the neonatal thrombocytopenia, 11.2% in our study.Conclusions: It can be concluded that thrombocytopenia is very much common in among our NICU admissions. Septicemia is its most important and most common cause.

The birth of a child with ambiguous genitalia and distressing event for the family and physician. It is important to make a diagnosis, for psychological, social, and medical reasons for particularly for recognizing accompanying life threatening disorders such as the salt losing form of congenital adrenal hyperplasia.