Uday Yanamandra

Diagnosis of osteoarticular tuberculosis

Abstract Accurate diagnosis in osteoarticular tuberculosis poses a difficulty due to deep inaccessible lesions, paucibacillary state, and initiation of empirical ATT in most of the cases. Diagnosis of osteoarticular TB evolved from clinicoradiological to serodiagnosis to detection of DNA/RNA of MTB origin. Newer modalities which aid in early diagnosis and treatment go a long way in management of osteoarticular TB by significantly decreasing morbidity. Subjecting all cases to panel of investigations including AFB staining, AFB culture/sensitivity, PCR, and histopathology on obtaining tissue have been proved more efficacious than resorting to single test. In particular serology alone is not diagnostic. High sensitivity and specificity of PCR and histopathology are found to be most useful diagnostic modalities in studies. Thus gold standard remains to be tissue diagnosis.

Ogilvie's syndrome in a case of myxedema coma.

Ogilvies syndrome [acute colonic pseudo-obstruction (ACPO)] presents as massive colonic dilatation without a mechanical cause, usually in critically ill patients due to imbalanced sympathetic and parasympathetic activity. The initial therapy remains conservative with supportive measures (correction of metabolic, infectious or pharmacologic factors) followed by neostigmine and decompressive colonoscopy. Surgery is reserved for patients with clinical deterioration or with evidence of colonic ischemia or perforation. A 60-year-old lady presented with fever, altered sensorium, obstipation, bradycardia and abdominal distension. Investigation revealed hyponatremia and acute colonic pseudo-obstruction. Supportive measures and decompressive colonoscopy were not of great benefit. Thyroid profile was suggestive of primary hypothyroidism. Colonic motility was restored only on starting thyroxin. The case is illustrative of the need to consider hypothyroidism, a common endocrine disorder, in the differential diagnosis of Ogilvies.

Central precocious puberty due to hypothalamic hamartoma in a six-month-old infant girl

Precocious puberty defined as an onset of puberty below eight years in girls and nine years in boys, has an incidence of approximately 1 / 5,000 – 1 / 10,000 subjects with a female / male ratio of 20: 1. It is etiologically classified broadly as central and peripheral. We present to you a case of isosexual (central), precocious puberty in a 16-month-old girl, who was symptomatic since the age of six months, and was later, diagnosed to have hypothalamic hamartoma. It is one of the earliest case records ever in the medical literature of menarche, at an extremely early age (six-month-old child) secondary to a central cause.

PAI-1 polymorphism as a cause of severe high altitude associated arteriovenous thrombosis

We present a 34-year-old man who developed disseminated intra-arterial and venous thrombosis following exposure to extreme high altitude. On evaluation, the patient was found to have thrombosis involving the aorta, bilateral iliac arteries and middle cerebral artery. On detailed evaluation for the cause of recurrent seizures, he was also found to have cerebral venous thrombosis of the superior sagittal sinus. The patient underwent amputation of 3 limbs due to gangrene. Procoagulant work up revealed increased plasminogen activator inhibitor-1 activity with 4G/4G polymorphism. This case highlights the life-threatening and limb-threatening thrombosis secondary to a rare inherited thrombophilia on exposure to extreme high altitude.

Genital vasculitis secondary to all-trans-retinoic-acid

Acute promyelocytic leukaemia is among the most curable haematological malignancies after the introduction of differentiating agents (arsenic trioxide (ATO) and all-trans-retinoic-acid (ATRA)). Despite excellent cure rates, approaching 85–95% in various series, APL is associated with significant early mortality and morbidity. ATRA-related side effects partly contribute to this morbidity, which commonly presents as differentiation syndrome, pseudo tumour cerebri, dermatitis, gastrointestinal disorders, liver dysfunction (raised transaminases) and dryness of skin/eyes. Rarely, ATRA can lead to hypercalcaemia, genital vasculitis, erythaema nodosum and Sweets syndrome. We present two cases of ATRA-associated genital vasculitis while being managed with a combination of ATO with ATRA therapy. Both patients developed these lesions despite being on prophylactic steroids (0.5 mg/kg). We also discuss the pathophysiology, clinical manifestations, differential diagnosis and treatment of genital vasculitis as a rare adverse event of ATRA.

Tuberculosis of breast: unusual manifestation of tuberculosis

Tuberculosis affects almost every organ of the body, and the breast is no exception. However, tuberculosis of the breast is rare, and the varied presentation requires a high index of suspicion, especially in middle-aged women for whom a clinical diagnosis of malignancy is likely to be made. We report two cases of primary tuberculosis of breast with different manifestations. One case presented as tuberculous mastitis and the other presented with a lump masquerading as breast carcinoma. The diagnosis in both cases was based on demonstration of acid-fast bacilli on histopathological examination. Resolution was complete with antitubercular therapy, and major surgical intervention was not necessary.

Penicilliosis presenting as fungating skin lesion

A 35-year-old HIV seropositive male patient presented with fever, weight loss, papules, nodules and fungating masses all over the body. Histopathological and mycological study of the skin biopsy tissue confirmed the diagnosis of penicilliosis. Although penicilliosis is restricted to Southeast Asia, more cases are being recognized in nonendemic countries.

Ellis-van Creveld syndrome presenting in the second decade

A 19-year-old woman born to non-consanguineous parents presented with primary amenorrhoea. Examination revealed a 1.3 m tall patient with disproportionate dwarfism (arm-span/height—ratio: 0.78); she was polydactyl with hypoplastic/dystrophic nails (figure 1). She had partial anodontia, and abnormally shaded and mal-occluded teeth (figure 2). The rest of the systemic examination was unremarkable. Radiography of the hands revealed fusion of the carpal bones (figure 3). Echocardiography revealed patent foramen ovale with no flow. No haematological/biochemical abnormalities were detected. The patients history …

Traditional first aid in a case of snake bite: more harm than good.

A 22-year-old man bitten by a snake reported to this centre 24 h after traditional first aid at the village. At presentation, he had no features of systemic envenomation. Local examination of the right lower limb revealed a clear delineation mark secondary to tight bands (tourniquet) (thin black arrows in figures 1 and 2), limb covered with cow dung and use of snake stones. On washing the limb, fang marks (broad red arrow in figure 1) with multiple local incisions/pricks/punctures below the knee in the bitten …

Miliaria crystallina: relevance in patients with hemato-oncological febrile neutropenia

We present two cases of febrile neutropenia (FN) with miliaria crystallina. The first patient, a 33-year-old man with pre-B acute lymphoid leukaemia (ALL) was admitted for FN postconsolidation with high-dose methotrexate (ANC-282/µL) on empirical antibiotics. He developed a clear fluid-filled vesicular rash appearing as water droplets (figure 1) following high-grade fever (104°F). The second patient, an 18-year-old man, also a case of ALL, was admitted with bronchopneumonia, diarrhoea …