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BSTRACT
MELAS is a mitochondrial cytopathy, with maternal inheritance and variable phenotype expression and severity depending on the degree of heteroplasmy. It presents with waxing and waning symptoms, in form of recurrent migrainous headache, transient loss of sight, hemianopsia, transient ischemic attack, or stroke-like episodes, focal seizures and even periods of altered sensorium. Here we present an 8-year-old boy presented with recurrent episodes of migrainous headache associated with vomiting sometimes and recurrent episodes of loss of vision for the past one year. As many of these episodes were precipitated by some febrile illness, so the child was suspected to have neurotuberculosis outside, because of Mantoux positivity. His mother also had similar episodes of recurrent headache and ultimately succumbed to cerebrovascular accident. Mitochondrial genome sequencing revealed heteroplasmic missense variation in the MT-TL1 gene (chrM:3243A>G).
Tuberculosis remains as an infectious disease with a very high prevalence in the Indian subcontinent. Deep vein thrombosis in tuberculosis is due to the increased fibrinogen levels, release of inflammatory cytokines and decreased synthesis of anti-coagulant proteins. We describe a case of deep venous thrombosis of bilateral lower limbs in association with pulmonary tuberculosis and protein S deficiency.
T he hyperimmunoglobulin E syndrome (HIES) is an uncommon primary immunodeficiency syndrome, with characteristic triad of frequent skin and sinopulmonary infections, eczema, and high serum immunoglobulin E (IgE) levels. It is also known as Job's syndrome or hyper-IgE recurrent infection syndrome (HIE) [1]. It is reported to occur in one in 1,000,000 population globally. However, exact incidence in Indian population is not available due to the rarity of this condition [1]. Davis et al. first described Job's syndrome in 1966 with reference to the Biblical Job, who had sore boils. Later, the syndrome was modified by Buckley et al. in 1972, with additional feature of elevated serum IgE levels [1]. With time, the spectrum of clinical manifestations of this syndrome has been elaborated to contain varied facial, musculoskeletal, neurological, rheumatological, vascular, and cardiac involvement along with recurrent soft-tissue infections. Mode of transmission of HIES is both autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) which lead to distinctive clinical profile and outcome. The AD-HIES is predominantly featured by pulmonary, rheumatological, and skeletal manifestations while the AR-HIES presents with distinct immunological manifestations, recurrent viral infections, and neurological impairment.
T he hyperimmunoglobulin E syndrome (HIES) is an uncommon primary immunodeficiency syndrome, with characteristic triad of frequent skin and sinopulmonary infections, eczema, and high serum immunoglobulin E (IgE) levels. It is also known as Job's syndrome or hyper-IgE recurrent infection syndrome (HIE) [1]. It is reported to occur in one in 1,000,000 population globally. However, exact incidence in Indian population is not available due to the rarity of this condition [1]. Davis et al. first described Job's syndrome in 1966 with reference to the Biblical Job, who had sore boils. Later, the syndrome was modified by Buckley et al. in 1972, with additional feature of elevated serum IgE levels [1]. With time, the spectrum of clinical manifestations of this syndrome has been elaborated to contain varied facial, musculoskeletal, neurological, rheumatological, vascular, and cardiac involvement along with recurrent soft-tissue infections. Mode of transmission of HIES is both autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) which lead to distinctive clinical profile and outcome. The AD-HIES is predominantly featured by pulmonary, rheumatological, and skeletal manifestations while the AR-HIES presents with distinct immunological manifestations, recurrent viral infections, and neurological impairment.
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