SummaryHaemophagocytic lymphohistiocytosis (HLH), also called haemophagocytic syndrome (HPS) is characterised by a dysregulated activation and proliferation of macrophages, leading to uncontrolled phagocytosis of platelets, erythrocytes, lymphocytes and their haematopoietic precursors throughout the reticuloendothelial system. Mycobacterium tuberculosis-associated HPS is a rare and underdiagnosed association. We report a 34-year-old male patient diagnosed with tubercular pleural effusion responding poorly to antitubercular treatment. Patient later developed generalised lymphadenopathy, pancytopaenia and liver dysfunction and was eventually diagnosed as HLH. Despite being treated as per HLH protocol 2004 he could not be saved. BACKGROUND

SummaryAtaxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis. BACKGROUND

Hemophagocytic lymphohistiocytosis (HLH) is an immune disorder characterized by uncontrolled inflammation due to defective immune response. It may be familial or acquired, but both share a common feature of threatening the life of a patient and may lead to death unless treated by appropriate treatment. Here in we report a case of adult HLH.

DESCRIPTIONA 52-year-old woman came to our rehabilitation department with a history of chronic low back pain radiating to both the legs. Her history was uneventful except for well-controlled depression and occasional pain killers for last 4 years. Examination revealed considerable postural asymmetry with right hip higher than left and right shoulder lower than left, paraspinal muscle fullness in the lumbar region, decreased lumbar lordosis, tenderness in L2-L5 lumbar vertebrae and in gluteal region. There was significant pain on lateral bending and spinal rotation which increased while coming from flexion to hyperextension. Manual muscle testing revealed weakness in abdominals, hip flexors (3/5) and quadriceps (4/5). Straight leg raising test was positive bilaterally and so was the prone lumbar instability test.X-Ray showed Grade 1 anterolisthesis (figure 1) of L3 over L4, block vertebrae of L4 and L5 and degenerative changes are predominantly involving L5 and S1 vertebrae.Considering it to be a case of block vertebra with chronic low back pain with radiculopathy, she was educated about her problem and various pain relieving positions. Guidance was given on proper posture maintenance and body mechanics with regular strengthening exercises. Modalities like moist heat and cryotherapy were recommended to relax muscles and reduce pain. The presence of lumbar block vertebrae is less common, 1 but if present, it results in premature degenerative changes owing to altered biomechanics.2 Thus early diagnosis of these anomalies and thorough workup will be helpful in establishing primary diagnosis and documenting long-term changes owing to these conditions. Also timely education of the patient to change life style can help keep various complications at bay. Learning points▸ Congenital blocked lumbar vertebra is a less common developmental disorder. ▸ Thorough workup of the patient is important to pin point affected areas. ▸ Patient education and life style modifications play a vital role. Figure 1 Grade 1 anterolisthesis of L3 over L4, block vertebrae of L4 and L5 and degenerative changes are predominantly involving L5 and S1 vertebrae.

SUMMARYMetabolic dysfunction in hypoparathyroidism is an important cause of intracranial calcifications, which cause cognitive impairment depending on the calcified areas leading to difficulties in executing activities of daily living. We report a case of a 25-year-old man who presented with gradually decreasing organisational skills, memory problems and difficulty in carrying out daily activities. CT imaging of the brain showed extensive calcification in the basal ganglia and cerebral white matter. Comprehensive health-related quality of life and cognitive assessment revealed significant affliction in his activities of daily living along with impairment in recall memory, executive functions and verbal fluency. Owing to late diagnosis, chronicity of cognitive problems could not prevent him from discontinuing his college education. BACKGROUND

EchinococcusandTaeniainfection are the two most relevant forms of cestode infection in humans. These infections occur worldwide, but with higher prevalence in developing countries like India, where poor hygiene facilitates their transmission. We report a case of a middle-aged man who presented with seizures and was found to have dual worm infection including Taenia and Echinococcus. The patient was treated with steroids and albendazole followed by PAIR (puncture, aspiration, injection of scolicidal agent and reaspiration). After 6 months of follow-up, the patient is asymptomatic and seizure-free without any relapse.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with diverse manifestations. Tuberculosis is known to induce and exacerbate SLE and it becomes quite difficult to diagnose tuberculosis in this setting, owing to a similar, overlapping presentation of tuberculosis and SLE. We report a case of disseminated tuberculosis in a patient with antinuclear antibody-negative SLE. Treatment was started with antitubercular drugs together with hydroxychloroquine and steroid. After 6 months of follow-up the patient recovered with treatment.

A 34 years old female presented with gradual painless loss of vision in right eye and ataxia with past history of being operated for cataract 12 years ago in left eye. On examination clini-cal examination, she had painless xanthomas of bilateral Achilles tendon, with ataxia and mild to moderate mental retardation and behavioral problems and further enquiring had histo-ry of intractable diarrhea during infancy. Magnetic resonance imaging of brain showed bilat-eral and almost symmetrically increased T2 signal intensity in the cerebellar and periventricu-lar white matter, basal ganglia, dentate nuclei and brainstem along with cerebellar and bilat-eral frontal lobe atrophy.