delayed contraction and relaxation of reflexes, and percussion myxedema. Objectives: To diagnose the rare association of VWGS and KDSS and to conduct a follow-up of the patient on replacement therapy. Methods: We present a case of a 9-year-old female child who presented to the endocrine department with complaints of intermittent vaginal bleeding, short stature, and difficulty in walking. On evaluation she was found to be having autoimmune hypothyroidism, FSH-dominated isosexual pseudoprecocious puberty, delayed bone age, secondary pituitary macroadenoma, delayed relaxation of deep tendon reflexes, and pseudohypertrophy of calf muscles. The diagnosis of VWGS associated with KDSS was made. The patient was initially put on 25 μg thyroxine replacement, which was titrated accordingly, and was followed up after 6 months and 1 year. Results: All the Key WordsVan Wyk-Grumbach syndrome · Juvenile hypothyroidism · Isosexual pseudoprecocious puberty · Multicystic ovaries · Kocher-Debré-Sémélaigne syndrome Abstract Background: Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, What Is Known about This Topic?• Van Wyk-Grumbach and Kocher-Debré-Sémélaigne syndromes are two rare presentations of primary hypothyroidism in pediatric patients. Only a single case of the simultaneous occurrence of these two syndromes has been described in the medical literature. What Does This Case Report Add?• This is the second description of the simultaneous occurrence of these rare syndromes, and we have shown that their manifestations fully resolve by thyroxine treatment without any sequelae.
BackgroundCerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.Case presentationWe present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started.ConclusionsThe peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.
Filariasis is a major public health problem in developing countries, and the diagnosis is conventionally made by demonstrating microfilariae in the peripheral blood smear. However, microfilariae have been incidentally detected in fine needle aspirates of various lesions in clinically unsuspected cases of filariasis with absence of microfilariae in the peripheral blood. Microfilariae in cytological smears of malignant neoplasms is a chance finding. Cytology can be an effective tool for detection of asymptomatic filariasis and malignancy, thus helping in disease eradication and mortality. There are reports of coexistence of microfilaria with Ewing’s sarcoma, squamous cell carcinoma of maxillary antrum and dentigerous cyst by different cytopathologists. Here we present a rare case of microfilariae in a cytological aspirate smear from left knee swelling with a malignant osteogenic tumor, osteosarcoma.
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