T. Sathish Kumar

Rapunzel syndrome : a diagnosis overlooked

We report two children who presented with a painless abdominal mass masquerading as a splenic enlargement. The paucity of symptoms resulted in delayed diagnosis. At laparotomy the trichobezoars were found to have a tail extending into the small intestine.

Approach to a Patient with Connective Tissue Disease

Connective tissue disease (CTDs), though rare in childhood, are an important cause of morbidity. Most of them involve multiple organ systems and are associated with presence of autoantibodies. Systemic lupus eryethematosus (SLE) is the most common CTD, the others being Juvenile dermatomyositis, systemic sclerosis, mixed connective disease and Sjogren syndrome. The clinical presentation of CTD in childhood can range from an acute severe illness mimicking a serious infection, to an insidious onset of disease with gradual accumulation of symptoms and signs over wks to months. The presence of multi-system involvement, evidence of inflammation and lack of any obvious cause should alert a clinician to the possibility of CTD. Diagnosis is usually clinical and features like malar rash, Raynaud’s phenomenon, Gottron’s rash, photosensitivity, oral ulcers suggest a possibility of CTD. Presence of autoantibodies like anti-nuclear antibodies, anti-dsDNA etc. provide supportive evidence to a diagnosis of CTD. Most CTDs are treated with immunosuppressive drugs with good success. Early recognition and prompt treatment results in excellent outcome

Vitamin D deficiency rickets with Lamellar ichthyosis

Examination revealed trauma-induced phthisis bulbi of the right eye and recurrent retinal detachment (rhegmatogenous) of the left eye with aphakia. There was also evidence of coarse chorioretinal atrophy on fundus examination of left eye suggestive of myopic disease. There was no positive family history or evidence of dural ectasia on MRI examination of the spines. Based on these, a diagnosis of Marfans syndrome was made in our patient.[4] Our patient satisfied the diagnosis of Marfans syndrome proposed by Rimoin et al in the absence of a positive family history by the presence of two major criteria (aortic dissection and aortic root dilatation) and the presence of more than two minor criteria (myopia, retinal detachment, mitral valve prolapse, skeletal deformities).[5]

Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype

Disease activity assessment in Takayasu arteritis (TA) is challenging. Human leukocyte antigen E (HLA‐E) is shed from endothelium into serum as a soluble molecule (sHLA‐E) in response to inflammation. We aimed to study: (i) utility of sHLA‐E as a biomarker of disease activity; and (ii) association of HLA‐E polymorphism rs1264457 with clinical disease in Asian‐Indian TA patients.

Paraneoplastic papilloedema in a child with neuroblastoma

Non-metastatic neurological disease complicating neuroblastoma is well recognized. Gross papilloedema in the absence of intracranial disease as initial manifestation of neuroblastoma is reported in adults. We report for the first time a case of bilateral papilloedema in a child with neuroblastoma in the absence of intracranial disease and hypertension.

Cervicofacial nocardiosis in an immunocompetent child

Nocardiosis occurs primarily as an opportunistic infection in an immunocompromised host. The infection may on rare occasion occur in a normal host confounding the diagnosis. It is also notably an uncommon infection in children. We report a 1‐y‐old girl with cervicofacial nocardial infection who presented with acute suppurative otitis media and lymphadenitis. This child did not have any predisposing risk factors for this infection and responded well to treatment with co‐trimoxazole and chloramphenicol. She is doing well on follow‐up.

Kenny-Caffey syndrome

Kenny-Caffey syndrome is a rare hereditary skeletal syndrome characterized by dysmorphic features, severe growth retardation, classical radiological changes and hypocalcemia with hypoparathyroidism at an early age. We report an 8-month-old girl child with Kenny-Caffey syndrome who had most of the features of the syndrome. Any child with hypocalcemia who has typical facial features should raise a suspicion of this syndrome.

Bilateral congenital emphysema: Unusual cause for recurrent respiratory tract infection

Congenital lobar emphysema is usually restricted to one lobe of a lung. We report a rare case of bilateral congenital lobar emphysema, where the right middle lobe and its equivalent on the left side (lingula) were affected. Newer modalities of imaging (like high resolution CT scan thorax) have made the simultaneous diagnosis of bilateral involvement possible, which otherwise could be missed in a plain chest radiograph.