Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.

Cutis laxa is a set of genetically heterogeneous conditions with phenotypes ranging from progeria-like appearance, corneal clouding, clenched fingers with marked retardation of growth both pre and postnatal growth to very mild phenotypes with skin laxity becoming evident in 2nd or 3rd decade. A child who presents with predominant motor delay is written off with a clinical diagnosis of rickets in the absence of any clinical sign of lax skin. Here, we report a 2-year-old child who presented with motor delay and joint hyperlaxity. Mutation analysis demonstrated a heterozygous mutationc.G1867A in the exon 15 of ALDH18A1 gene known to cause autosomal dominant cutis laxa.

Management of Infants with Congenital Adrenal Hyperplasia.

Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. The current review focuses on follow-up and management of infants diagnosed with classical CAH pertinent to Indian context. Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy and childhood. Fludrocortisone is recommended for all infants with classical CAH. All infants should be monitored as per protocol for disease and treatment related complications. The role of prenatal steroids to pregnant women with previous history of CAH affected infant for prevention of virilization of female fetus is controversial.

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguous genitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to a missed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening for CAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestational age is also suggested. The protocol also recommends a two-tier protocol of initial immunoassay/time resolved fluoroimmunoassay followed by liquid chromatography tandem mass spectrometry for confirmation of screen positive babies, wherever feasible. Routine molecular and genetic testing is not essential for establishing the diagnosis in all screen positive babies, but has significant utility in prenatal diagnosis and genetic counseling for future pregnancy.

An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi.

OBJECTIVE: To determine an appropriate cut-off of capillary Thyroid stimulating hormone (TSH) for congenital hypothyroidism. STUDY DESIGN: Cross-sectional. PARTICIPANTS: 174,000 neonates born in different hospitals of Delhi, India, from November 2014 to October 2016. MAIN OUTCOME MEASURES: Correlation between initial and repeat capillary TSH level and subsequent venous free thyroxine (fT4) level. RESULTS: 102 newborns with initial/ repeat capillary TSH level of ≥20 mIU/L (n=174) were confirmed to have congenital hypothyroidism at mean (SD) age of 5 (4) days. A good correlation between capillary TSH level and confirmatory venous fT4 level and postnatal age of sampling was obtained (r -0.6, -0.4). The area under the ROC curve (AUC) was 0.81 (95%CI 0.75 to 0.88), indicating referral capillary TSH level of 20 mIU/L to be a good predictor of subsequent high venous TSH level. CONCLUSIONS: A cut off of ≥20 mIU/L for capillary TSH screening beyond 24 hours of life is optimal in the Indian setting for deciding further recall and workup, keeping a balance between sensitivity and recall rate.

Diagnostic Accuracy of International Epidemiology Network (INCLEN) Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) in Comparison with Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5).

OBJECTIVE: To compare the diagnostic accuracy of INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) against Diagnostic and Statistical Manual of Mental Disorders - 5 (DSM-5) for the diagnosis of Autism Spectrum Disorder (ASD). METHODS: 118 children aged 2-9 years with symptoms suggestive of ASD were assessed by INDT-ASD and DSM-V by trained personnel. ASD diagnosis by INDT-ASD was compared against the expert's DSM-5 diagnosis. RESULTS: INDT-ASD had a sensitivity and specificity of 100% and 75%, respectively against DSM-5 for the diagnosis of ASD; specificity for Autistic Disorder was 87%. CONCLUSION: The INDT-ASD has a good sensitivity and specificity against DSM-5, and can continue to be used for the diagnosis of ASD even after the adoption of DSM-5 criteria.

Visceral leishmaniasis with Roth spots.

Visceral leishmaniasis (VL) is caused by the protozoan parasite Leishmania donovani and transmitted by the bite of infected sandfly Phlebotomus argentipes. The protozoa is obliged intracellularly and causes a wide spectrum of clinical syndromes: VL ('kala azar'), cutaneous leishmaniasis and mucocutaneous leishmaniasis (espundia). Kala azar is the most aggressive form and if untreated causes high mortality. Here, we describe a case of VL that presented to us with high-grade fever and found to have Roth spots that were resolved after 15 days of therapy.