BackgroundGillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka.Case presentationA 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene.ConclusionThe report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.
Background Tetrahydrobiopterin (BH 4 ) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH 4 synthesis which exists in recessive and dominant forms. The recessive form presents with complex neurological and autonomic dysfunction whilst the dominant form presents as Dopa-responsive dystonia. Case presentation We describe a South Asian child who initially presented with neurological dysfunction and recurrent vomiting and later developed recurrent hyperthermia for several months. The child did not have screening for hyperphenylalaninemia at birth and was found to have marked hyperphenylalaninemia after clinical presentation at 5 months. Further evaluation revealed BH 4 deficiency. GTP-Cyclohydrolase I deficiency (GTPCH) was identified based on normal dihydro pteridine reductase activity and markedly reduced neopterin in dried blood spot test. After institution of treatment and control of high phenylalanine levels, clinical deterioration decelerated yet with noticeable residual neurological dysfunction. Conclusion To authors’ knowledge, this is first report of GTPCH deficiency in a South Asian child. The case highlights practical issues regarding diagnosis of GTPCH deficiency, especially in countries without broader universal newborn screening programs for early detection of inherited metabolic disorders. Testing for GTPCH deficiency should be considered for patients with unexplained neurological and autonomic symptoms following initial metabolic screen.
Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. The acute onset PCH occurs following viral illnesses whilst the chronic form is secondary to hematological malignancies and tertiary syphilis. It is a complement mediated intravascular hemolytic anemia associated with a biphasic antibody against the P antigen on red cells. We describe a three year child who had acute onset PCH following likely viral infection. The diagnosis was confirmed by demonstration of strongly positive Donnath Landsteiner antibodies. She made a gradual recovery with supportive treatment, ten days following the initial detection of haemolysis. Parents were educated about the need to avoid cold exposure to prevent precipitation of further haemolysis and folic acid was commenced to assist the recovery of erythropoiesis. Bangladesh Journal of Medical Science Vol.20(3) 2021 p.654-657
Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. The acute onset PCH occurs following viral illnesses whilst the chronic form is secondary to hematological malignancies and tertiary syphilis. It is a complement mediated intravascular hemolytic anemia associated with a biphasic antibody against the p antigen on red cells. We describe a three-year child who had acute onset PCH following likely viral infection. The diagnosis was confirmed by demonstration of strongly positive Donnath Landsteiner antibodies. She made a gradual recovery with supportive treatment, ten days following the initial detection of hemolysis. Parents were educated about the need to avoid cold exposure to prevent precipitation of further hemolysis and folic acid was commenced to assist the recovery of erythropoiesis.International Journal of Human and Health Sciences Vol. 06 No. 01 January’22 Page: 147-149
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