We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. Radiological imaging of the chest revealed bilateral bronchiectasis. Otoscopic examination showed features suggestive of chronic suppurative otitis media. Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus, a diagnosis of hyper-IgM syndrome type 2 was confirmed. The patient was started on monthly intravenous immunoglobulin replacement therapy and is currently symptomatically better, and she remains under regular follow-up.

Acute cerebellar ataxia (ACA) is a self-limited syndrome that is frequently post-infectious, most commonly following Varicella infection having an autoimmune mechanism. ACA is the commonest cause of childhood ataxia. We report a 14-year-old male who presented with acute onset wide-based gait and slurring of speech with dysdiadochokinesia, incoordination of voluntary movements, pendular knee jerk, and intentional tremors. He had worsening transaminitis and rising bilirubin during his hospital course and was subsequently found to be hepatitis A virus (HAV) immunoglobulin-M antibody positive. Thus, we report a case of ACA with HAV infection who developed jaundice after three weeks of onset of ataxia, a rarity that has not been reported so far in medical literature.

Background: Acanthamoeba is a rare cause of granulomatous amoebic encephalitis (GAE) associated with high mortality. There have been few case reports of Acanthamoeba meningoencephalitis worldwide. Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory condition caused by abnormally active macrophages and cytotoxic T lymphocytes; its secondary form is due to infections or malignancies. However, HLH is rather an unknown complication of GAE. We describe an unusual and previously unreported case of Acanthamoeba meningoencephalitis in a young immunocompetent female culminating in secondary HLH. Case presentation: A 19-year-old female from southern India residing in Uzbekistan presented with low grade fever for 20 days and altered sensorium for 8 days. On examination, she was febrile, had pallor, neck stiffness, irritable with GCS 12/15. A provisional diagnosis of acute meningoencephalitis was made. Cerebrospinal fluid (CSF) wet mount for free-living amoeba demonstrated organisms resembling Acanthamoeba spp. trophozoites which was confirmed by CSF polymerase chain reaction for Acanthamoeba. The patient was started on combination therapy. On admission she had anaemia and thrombocytopenia which progressed to worsening pancytopenia and significantly raised ferritin, triglycerides and transaminase. Clinical diagnosis of HLH was made, her clinical condition kept on worsening, necessitated intubation and mechanical ventilation. She succumbed to her illness with multi-organ dysfunction. Postmortem minimally invasive tissue sampling (MITS) was done to collect specimens from brain, lung, liver and spleen for histopathological examination. Splenic specimen showed congestion of red pulp with collection of macrophages and hemophagocytes with areas of micro-abscess. The final impression from MITS of all organs was septicaemia-induced changes with hemophagocytes. Conclusions: To the best of our knowledge, we report the first case of Acanthamoeba meningoencephalitis causing secondary HLH. Our case highlights this rare association and the need for extensive clinical and laboratory evaluation of suspected patients by a multidisciplinary team.