Mauriac syndrome is a rare but classical complication of poorly controlled type 1 diabetes mellitus (T1DM), characterized by growth retardation, delayed puberty, hepatomegaly, and delayed skeletal maturation. Although uncommon in the era of intensive insulin therapy, sporadic cases continue to be reported, particularly in resource-constrained settings. We report the case of an 18-year-old male with T1DM diagnosed at the age of six years who presented with severe growth retardation, delayed pubertal development, and hepatosplenomegaly. The patient had a history of prolonged suboptimal glycemic control during childhood and adolescence and was receiving a basal-bolus insulin regimen comprising regular insulin (4 units before each meal) and insulin glargine (8 units at bedtime). At presentation, glycemic control was relatively satisfactory, with glycated hemoglobin (HbA1c) of 8.0%. Clinical examination revealed short stature below the third percentile, Tanner stage II sexual maturation, hepatomegaly, and splenomegaly. Growth chart analysis demonstrated persistent growth failure, while radiographic assessment of the left hand, wrist, and elbow revealed marked delay in skeletal maturation with a bone age of approximately nine years despite a chronological age of eighteen years. Endocrine evaluation showed low serum testosterone levels with inappropriately low gonadotropins, suggestive of hypogonadotropic hypogonadism. Ultrasonography confirmed hepatosplenomegaly, likely secondary to glycogenic hepatopathy. The constellation of long-standing T1DM, severe growth retardation, delayed puberty, delayed bone age, and hepatosplenomegaly established the diagnosis of classical Mauriac syndrome. This case highlights that Mauriac syndrome, though rare, remains an important differential diagnosis in adolescents with T1DM presenting with growth failure and delayed puberty, even in the presence of apparently acceptable contemporary glycemic control.
Subacute granulomatous thyroiditis (De Quervain thyroiditis) is a self-limiting inflammatory disorder characterized by painful thyroid enlargement, fever, and elevated inflammatory markers. While its clinical presentation is often distinctive, ultrasonographic (USG) findings can occasionally simulate thyroid malignancy, specifically mimicking infiltrative neoplasms with irregular margins and hypoechoic areas, leading to diagnostic uncertainty. This report details the case of a 30-year-old woman who presented with acute painful neck swelling and thyrotoxicosis. USG revealed heterogeneous solid lesions with irregular margins, classified as Thyroid Imaging Reporting and Data System 4, raising significant suspicion of malignancy. Fine-needle aspiration cytology (FNAC) proved crucial, demonstrating characteristic epithelioid granulomas and multinucleated giant cells, thereby confirming the diagnosis of subacute thyroiditis and averting an unnecessary thyroidectomy. This case underscores the indispensable role of FNAC in resolving diagnostic dilemmas where radiological findings are misleadingly suggestive of malignancy
Scrub typhus is an important cause of acute undifferentiated febrile illness in children residing in endemic regions of India. Its diagnosis is often challenging because of non-specific clinical manifestations and the absence of classicalsigns such as eschar. We report the case of a 12-year-old boy from Northeast India who presented with persistent high grade fever, generalized weakness, and reduced oral intake. Clinical examination revealed mild bilateral pedal edemawithout rash, eschar, hepatosplenomegaly, or neurological abnormalities. Initial empirical treatment with intravenousceftriaxone failed to produce significant clinical improvement. Further evaluation demonstrated elevated inflammatorymarkers and positive Scrub Typhus Immunoglobulin M serology, confirming the diagnosis. The child was treated withintravenous doxycycline 65 mg twice daily, followed by oral doxycycline, resulting in rapid defervescence and markedclinical recovery within 48 h. This case highlights the importance of maintaining a high index of suspicion for scrubtphus in children presenting with prolonged fever in endemic areas, even in the absence of classical clinical findings.Early diagnosis and timely initiation of doxycycline therapy are essential for preventing severe complication and ensuring favorable outcomes.
Osteochondroma is a benign osteocartilaginous lesion that commonly develops in the metaphyseal region of growing bones. Although it is the most prevalent benign tumor of the skeleton, its occurrence in the foot is uncommon, and involvement of the toe phalanges is rarely encountered. We present the case of a 16-year-old male who developed a progressively enlarging bony swelling over the third toe of the right foot, resulting in claw toe deformity and difficulty with footwear. Clinical and radiological assessment identified a pedunculated lesion originating from the proximal phalanx. Surgical excision of the mass, combined with correction of the associated deformity, was performed successfully. Histopathological examination confirmed the diagnosis of osteochondroma. The patient achieved good functional recovery with no evidence of recurrence during follow-up. This report draws attention to an unusual presentation of osteochondroma and emphasizes the importance of considering osseous lesions in the evaluation of acquired toe deformities.
Chronic lymphocytic leukemia (CLL) is a monoclonal lymphoproliferative disorder. It is one of the commonhematolymphoid neoplasms in elderly adults. Co-existence with hemoglobinopathies is a less-known presentation.Here, we present the case of an 82-year-old male patient who was under evaluation for elective surgery for a hernia.He also has a previous history of ischemic heart disease and is a known case of beta-thalassemia trait. On routineevaluation for surgery, he was found to have leukocytosis of 26,200 cells/cu.mm and absolute lymphocyte countof 17,816 cells/cu.mm, hemoglobin of 10.1 mg/dL, red blood cells of 5.15 × 106, and mean corpuscular volume of63.2 fL. Further evaluation of lymphocytosis by flow cytometry showed immunophenotypic results consistent with Beta thalassemia trait is a common hemoglobinopathy, and CLL is also a common hematological neoplasm.However, co-existence of both is rare and under-reported.
