ABSTRACT
Children with citrullinaemia commonly present in the neonatal period with life-threatening hyperammonaemia and progressive encephalopathy. Less often, 'hypomorphic' or mild late-onset childhood or adult-onset forms may be seen with intermittent neurological symptoms or acute crisis in pregnancy. We describe an 11-year-old boy with late-onset citrullinaemia manifesting as brief episodes of ataxia triggered by minor febrile illnesses, significant citrullinaemia, mild hyperammonaemia, normal neurological examination and mild cerebellar atrophy. Targeted gene sequencing showed a homozygous, missense mutation c.815G>A (p.R272H) in exon 12 of ASS1 gene resulting in the amino acid substitution of histidine for arginine at codon 272. Our case highlights the importance of recognising urea cycle defects as a cause of intermittent neurological symptoms such as ataxia. Type-1 citrullinaemia may remain hypomorphic and needs a high index of suspicion.
Subject(s)
Ataxia/etiology , Citrullinemia/diagnosis , Citrullinemia/genetics , Mutation, Missense , Administration, Oral , Arginine/administration & dosage , Child , Citrullinemia/complications , Citrullinemia/therapy , Diet, Protein-Restricted , Genetic Testing , High-Throughput Nucleotide Sequencing , Humans , Male , Sodium Benzoate/administration & dosageABSTRACT
To study the clinical profile of Henoch Schönlein Purpura [HSP] in children. A retrospective case series of 30 consecutive children with a diagnosis of HSP, with special focus on clinical manifestations. Two cases with unusual features are described in detail. Data of 19 boys and 11 girls with a mean age of 10.55 years was reviewed. Overall skin was involved in 100%, joints in 86.7%, GIT in 80% and renal system in 30% Two-thirds had palpable purpura at presentation. The mean duration of appearance of skin lesions after preceding joint and gastrointestinal symptoms was 8.6 days and 6.6 days respectively. Abdominal pain was the most common gastrointestinal symptom. Knee and ankle involvement occurred in more than 3/4th of the patients with arthritis. Vesciculobullous lesions were seen in two patients while one patient had rheumatic fever. Most children with HSP will have classical manifestation of the disease but diagnostic confusion can occur in those with atypical or absent cutaneous features at the onset.
Subject(s)
IgA Vasculitis/pathology , Joint Diseases/pathology , Skin Diseases/pathology , Skin/pathology , Adolescent , Child , Female , Gastrointestinal Diseases/etiology , Gastrointestinal Diseases/pathology , Humans , IgA Vasculitis/complications , Joint Diseases/etiology , Male , Retrospective Studies , Skin Diseases/etiologyABSTRACT
Rickettsiae are in many places of the world emerging or reemerging pathogens. The spotted fevers group (SFG) composes a large group of tick- and mite-borne zoonotic infections that are caused by closely related rickettsiae. The SFG rickettsiae of Southeast Asia are yet to be identified. Earlier reports have documented the endemicity of rickettsioses among adults in the Himalayan belt but no confirmed case of spotted fever have been reported from this region of India. We present two cases of SFG rickettsioses; from the northern hilly region of India that were confirmed using specific microimmunofluorescence assay.
