Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism. Further evaluation revealed moderate sensorineural hearing loss; genetic analysis showed that baby was homozygous for the known mutations causing the disease. INTERVENTION: Thyroid hormone replacement and hearing habilitation were done. Follow up showed regression of the neck mass and normalization of thyroid function tests. Genetic counseling of the family was done. MESSAGE: Identification of the exact cause of congenital hypothyroidism can prevent grave consequences later on for the patient as well as for the family.

Vanishing white matter disease with mutations in EIF2B5 gene.

An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5; confirming the diagnosis.

Quality of Life of Adolescents With Transfusion-dependent Thalassemia and Their Siblings: A Cross-sectional Study.

Transfusion-dependent thalassemia (TDT) and its treatment affect the physical, emotional, and social functioning, impairing the quality of life (QoL). There are few studies on QoL of adolescent with TDT. Its effect on their siblings' QoL has not been studied so far. In this cross-sectional study, 40 adolescents with TDT, 28 siblings, and 40 controls were studied to assess the QoL of adolescents thalassemics, and their siblings using the shorter version of World Health Organization Quality of Life instrument, the WHOQOL-BREF. Thalassemics had poor perception of their general health and scored significantly lower in all the subscales compared with the controls. Lowest mean subscale scores were for physical (57.7 vs. 72.4, P<0.001), and psychological domains (56.7 vs. 72.3, P<0.001). Their siblings also scored significantly less in environment domain. Prevalence of school dropout, short stature, and delayed puberty were significantly higher in thalassemics. Pretransfusion hemoglobin, age at onset of anemia, and chronological age were found to be significant predictors of total summary scores. This study showed that the concept of QoL is a cumulative reflection of individual and disease variables and highlights the negative impact of thalassemia on the patients' QoL and some aspects of their siblings' lives also.

Congenital rubella syndrome with blueberry muffin lesions and extensive metaphysitis.

We report a case of Congenital Rubella Syndrome (CRS) in a newborn. The baby had blueberry muffin skin lesions, long bone metaphysitis and congenital heart defects. With this case report we would like to highlight the existence of congenital rubella syndrome in the community, prompt the clinicians to make a diagnosis of CRS in children with suggestive clinical signs, and to create awareness against this vaccine- preventable disease and consideration to include MMR vaccination in nation immunization schedule.