The Coexistence of Two Genetic Astrocytopathies-Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease-in an Indian Child.

A 9-month-old male child, born of second-degree consanguinity, presented with a progressively enlarging head since early infancy. The child had normal early development, but further acquisition of milestones after 6 months was delayed. He had afebrile seizures at 9 months, followed by the appearance of appendicular spasticity. First magnetic resonance imaging (MRI) showed nonenhancing, diffuse, bilaterally symmetrical T1/fluid-attenuated inversion recovery (FLAIR) hypointensity and T2 hyperintensity of the cerebral white matter and anterior temporal cysts. Subsequently, the periventricular and deep white matter developed microcystic changes with a pattern of radial stripes. Next-generation sequencing revealed homozygous autosomal recessive variations in the MLC1 gene [c.188T > G, (p.Leu63Arg)] on exon 3 and also in the EIF2B3 gene [c.674G > A, (p.Arg225Gln)] on exon 7, the parents being heterozygous carriers for both variations. This article highlights the rare occurrence of two leukodystrophies of diverse pathogenesis in a child from a nonpredisposed community.

Space occupying lesion presenting as Millard-Gubler syndrome.

Millard-Gubler syndrome (MGS) is a ventral pontine syndrome due to an ipsilateral involvement of abducens and facial nerve with a contralateral hemiparesis or hemiplegia. Although classically described as a vascular brainstem syndrome, various other aetiologies such as infection or demyelination may lead to MGS. In this case, a young female presented with MGS, which was attributed to a strategically located infective granuloma of the brainstem. In countries, where tuberculosis is still considered an endemic, central nervous system involvement due to tuberculosis may have protean manifestations.

A Case of Systemic Lupus Erythematosus without Antiphospholipid Syndrome Causing Superior Vena Cava Syndrome.

Systemic lupus erythematosus (SLE) is an autoimmune disease with multisystem involvement. Superior vena cava (SVC) syndrome is mainly caused by malignant tumors such as lung carcinoma, lymphoma, and metastatic tumors. We report a 20-year-old woman who was admitted with features of SVC syndrome secondary to SVC thrombus. Further evaluation confirmed the diagnosis of SLE without associated antiphospholipid syndrome (APS). The patient was treated with heparin with oral anticoagulant, steroids, and hydroxychloroquine. Complete resolution of thrombus was documented within a few weeks. SVC thrombosis as an initial presenting feature of SLE without associated APS has not been reported so far in the literature.

Acute viral hepatitis E complicated with acute pancreatitis in an immunocompetent adult.

Acute viral hepatitis has been associated with several extrahepatic complications. Fulminant liver failure secondary to acute viral hepatitis may be complicated by acute pancreatitis. However, in the setting of benign viral hepatitis, in the absence of liver failure, association of pancreatitis is uncommon, that too in an otherwise immunocompetent individual. The exact mechanism of hepatitis-related pancreatitis remains elusive. Proposed mechanisms include immune-mediated injury against infected pancreatic acinar cells, oedema of the ampulla of Vater and release of lysosomal enzymes from the liver. A high index of clinical suspicion is needed in any case of viral hepatitis with severe abdominal pain to recognise acute pancreatitis as a possible complication, which may increase both morbidity and mortality if unrecognised. Herein, we report a case of a young man presenting with acute viral hepatitis due to hepatitis E infection, complicated by acute pancreatitis.

Clostridioides difficile-induced diarrhoea following dasatinib therapy.

Dasatinib, an oral tyrosine kinase inhibitor, is approved for therapy of chronic myeloid leukaemia (CML). Common adverse effects of this therapy include myelosuppression, fluid retention and diarrhoea. However, Clostridioides difficile infections (CDIs) in the context of dasatinib therapy, without a history of antecedent antibiotic use, has not been reported previously. We present here a case of a 36-year-old man diagnosed with accelerated phase of CML, who was started on treatment with dasatinib. Two months into therapy, he experienced profuse diarrhoea and abdominal pain. Colonoscopy revealed multiple confluent colonic mucosal ulcerations. Immunoassay study of stool revealed positive C. difficile toxin. The patient was started on oral metronidazole, with discontinuation of all other drugs, including dasatinib. He made a complete uneventful recovery following 2 weeks of antibiotic therapy. Chemotherapeutic agents, such as dasatinib, should be considered as possible etiological agents in the pathogenesis of CDI, even in absence of antibiotic use.

Hypercalcaemia in primary hyperparathyroidism: a rare cause of recurrent acute pancreatitis.

Hyperparathyroidism leading to hypercalcaemia is a rare cause of acute pancreatitis with debatable association. The diagnosis of hyperparathyroidism is frequently overlooked or delayed as symptoms are non-specific and serum calcium is not routinely measured in acute pancreatitis. Early diagnosis and treatment of hyperparathyroidism may reduce the chances of complications. We report a 35-year-old woman, who was admitted with recurrent episodes of acute pancreatitis. She was previously diagnosed with gall-stone induced acute pancreatitis, had undergone laparoscopic cholecystectomy, but the recurrence of acute pancreatitis suggested an alternative aetiology and provoked extensive investigations. Serum calcium was found to be elevated. No additional risk factor for pancreatitis was found. Further workup revealed primary hyperparathyroidism, which was due to a functioning parathyroid adenoma. She has undergone parathyroidectomy followed by an uneventful recovery. She subsequently conceived and is now in her first trimester, without any recurrence of acute pancreatitis since her surgery.

Subacute thyroiditis as a presenting manifestation of COVID-19: a report of an exceedingly rare clinical entity.

The SARS-CoV-2 has wreaked havoc globally and has claimed innumerable lives all over the world. The symptoms of this disease may range from mild influenza-like symptoms to severe acute respiratory distress syndrome with high morbidity and mortality. With improved diagnostic techniques and better disease understanding, an increased number of cases are being reported with extrapulmonary manifestations of this disease ranging from renal and gastrointestinal to cardiac, hepatic, neurological and haematological dysfunction. Subacute thyroiditis is a self-limiting and painful thyroid gland inflammation most often secondary to viral infections. We report a case of subacute thyroiditis in a 58-year-old gentleman presenting with a painful swelling in the neck who was subsequently detected to be positive for SARS-CoV-2. We seek to highlight the broad clinical spectrum of the COVID-19 by reporting probably the first case of subacute thyroiditis possibly induced by SARS-CoV-2 infection from India.

COVID-19-associated acute transverse myelitis: a rare entity.

SARS-CoV-2 has wreaked havoc globally and has claimed innumerable lives all over the world. Apart from the characteristic respiratory illness, this disease has been associated with florid extrapulmonary manifestations and complications. A 59-year-old female healthcare worker presented with features of acute-onset non-compressive myelopathy with a sensory level at T10 segment along with high-grade fever for 4 days. MRI of dorsal spine was suggestive of myelitis at T7 vertebral level. She was initiated on injectable steroids and did show some initial signs of recovery. A day later, she developed an acute-onset respiratory failure but could not be revived despite our best efforts. Her nasopharyngeal and oropharyngeal swab turned out to be positive for SARS-CoV-2 reverse transcriptase polymerase chain reaction (RT-PCR). We hereby report a case of acute transverse myelitis with COVID-19 as a probable aetiology.