Severe hypocalcaemia episodes in a patient of primary hypoparathyroidism precipitated by underlying stress due to haemophagocytic lymphohistiocytosis (HLH) secondary to pulmonary tuberculosis.

A man in his 20s who had previously experienced multiple episodes of transient loss of consciousness, majorly attributable to the seizures, presented with a 1-month history of increased seizure frequency, high-grade fever and weight loss. Clinically, he had postural instability, bradykinesia and symmetrical cogwheel rigidity. His investigations revealed hypocalcaemia, hyperphosphataemia, inappropriately normal intact parathyroid hormone, metabolic alkalosis, normomagnesemic magnesium depletion, and increased plasma renin activity and serum aldosterone concentration. CT scan of the brain revealed symmetrical calcification of the basal ganglia. The patient had primary hypoparathyroidism (HP). A similar presentation of his brother indicated a genetic cause, most likely autosomal dominant hypocalcaemia with Bartter's syndrome type 5. The patient's fever was caused by underlying haemophagocytic lymphohistiocytosis secondary to pulmonary tuberculosis, which triggered acute episodes of hypocalcaemia. This case represents a complex interplay of a multifaceted relationship between primary HP, vitamin D deficiency and an acute stressor.

Fulminant subacute sclerosing panencephalitis (SSPE) presented with acute hemiparesis in a 13-year-old girl with perinatally acquired HIV infection.

A 13-year-old girl with perinatally acquired HIV infection was admitted to us with acute onset, right-sided hemiparesis of 30 days duration and right-sided myoclonic jerks of 2 days duration affecting the face, upper and lower limbs. On examination, she exhibited increased tone and a pyramidal pattern of weakness in her right upper and lower limbs, along with spontaneous multifocal myoclonic jerks in the affected area. IgG levels in the serum and cerebrospinal fluid for measles were significantly elevated. Brain MRI depicted T2-weighted-hyperintensities in the subcortical white matter. The electroencephalogram demonstrated evidence of lateralised long interval periodic discharges. This patient had no past behavioural problems or poor academic performance. This case underlines the fact that, though subacute sclerosing panencephalitis (SSPE) is a chronic disease, a rare fulminant form of SSPE might develop acutely and atypically, with an increased proclivity for HIV-infected patients.

Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type.

This 55-year-old man was admitted to the hospital with an insidious onset, progressive backward fall (due to severe truncal ataxia), dysarthria, stiffness in extremities, distal dominant muscle wasting along with behavioural changes and urinary incontinence. Clinical assessment indicated mild cognitive decline (Mini-Mental State Examination 22/27) with cerebellar, pyramidal and peripheral nerves involvement. On investigations, nerve conduction studies revealed symmetrical, sensorimotor peripheral neuropathy affecting both lower limbs. Brain and whole spine MRI revealed widespread cerebral and mild cerebellar atrophy, pons and medulla volume loss, and a normal spinal cord. Transthoracic echocardiography revealed concentric left ventricular hypertrophy. His gene analysis revealed eight GAA repeats on allele 1, and 37 GAA repeats on allele 2 in the first intron of the frataxin gene. Considering his clinical profile and genetic analysis, he was diagnosed as a case of very late-onset Friedreich's ataxia with likely compound heterozygous genotype.