A case of Griscelli syndrome.

A hallmark of Griscelli syndrome, a rare autosomal recessive disorder, is hair hypopigmentation characterized by a silver-gray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft. Either a primary neurological impairment or immune abnormalities are associated with this phenotype. We report the case of a 10-year-old child of consanguineous parents. He presented with abdominal pain and fever and was noted to have silvery hair, eyelashes, and eyebrows. Bone marrow studies indicated hemophagocytosis, whilst microscopic examination of the hair showed irregular agglomerations of pigment in hair shafts. The prognosis, treatment, and genetic counseling needs differ considerably among the various forms of Griscelli Syndrome.

Congenital Hyperferritinemia Diagnosed in A 2 Month Old-A Case Report from India.

BACKGROUND: In clinical medicine, ferritin is predominantly utilized as a serum marker of total body iron stores. In cases of iron deficiency and overload, serum ferritin serves a critical role in both diagnosis and management. Elevated serum and tissue ferritin are linked to coronary artery disease, malignancy, and poor outcomes following stem cell transplantation. Ferritin is directly implicated in less common but potentially devastating human diseases including sideroblastic anemias, neurodegenerative disorders, and hemophagocytic syndrome. METHOD: We report a case of congenital hyperferritinemia with serum iron within reference range, along with bronchopneumonia, acyanotic congenital heart disease, anemia, hypocalcaemia and dysmorphism in a 2 month old baby. Symptomatic treatment was given. RESULT: The baby was discharged after 7 days. In a stable condition and having gained some weight.He was diagnosed as a case of congenital hyperferritinemia as C reactive protein levels normalized but ferritin levels remained high and A37C mutation within the iron-responsive element of L-ferritin was detected. He was born to consanguineous parents, there was history of cataract in the family and his mother also had high serum ferritin levels. CONCLUSION: This case is an example of the detection of a rare genetic disorder in a child admitted with apparently innocuous symptoms of fever and inflammation. Our case underlines the importance of monitoring ferritin levels, along with other signs of inflammation in order to differentiate congenital hyperferritinemia from inflammatory cause.

Non-01 Vibrio cholerae septicemia and meningitis in a neonate.

Non-O1 Vibrio cholerae is known to cause diarrhoea as well as extra-intestinal infections in adults and children. However meningitis in children is a rare occurrence. We report a neonate who developed septicemia and meningitis due to Non-O1 Vibrio cholerae.