Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.

Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.

Prevalence and Associated Clinical Features of Type 1 Diabetes Mellitus Among Children Presented to a Tertiary Health Care Center of Himalayan Foothills.

Introduction Diabetes Mellitus (DM) is a complex metabolic disorder characterized by chronic hyperglycemia. Knowing its prevalence, associated clinical features, and complications is essential for diagnosing children having diabetes-like clinical features. Since there is a limited study from India and no similar study from this geographical part, the present study was carried out. Material and method It is a cross-sectional study, which includes children aged 1-18 years presented to the pediatric outpatient department (OPD), inpatient department (IPD), and emergency with clinical features of Type 1 Diabetes Mellitus (T1DM). The enrolled cases were assessed for confirmation of T1DM, and clinical features and associated complications were recorded in the case record form. Result A total of 218 children with clinical features of T1DM were enrolled, out of which 32 (14.7%) had T1DM. Among the 32 T1DM patients, 31 (96.9%) of the participants presented with polyuria, 29 (90.6%) had polydipsia, and 13 (40.6%) had polyphagia. Out of 32 children, 3 (9.38%) had diabetic neuropathy, and 1 (3.1%) had diabetic retinopathy. Conclusion We found that many children with diabetes have clinical features of T1DM and uncontrolled blood sugar. This emphasizes the need for early detection and treatment to prevent long-term complications.

Poncet's Disease: A Case Report.

Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (MTB). It spreads from one person to the another through the air while coughing, spitting, speaking or sneezing. TB most commonly affects lungs but it can affect any organ system. Diagnosis of TB is made on the basis of microbiological evidence of MTB on microscopic examination, cultures and chest X-rays. Poncet's disease is a separate entity in which joints are involved in the form of joint pain and swelling without any microbiological evidence of MTB. It usually occurs in the background setting of pulmonary TB. This case focuses on importance of considering Poncet's disease in the differential diagnosis of paediatric polyarticular arthritis in TB endemic regions or if there is a history suggestive of TB exposure and infection.