Subject(s)
Crigler-Najjar Syndrome/complications , Female , Humans , Infant , Kernicterus/etiology , Phenobarbital/therapeutic useABSTRACT
A neonate with a fatal cardiac malformation due to maternal valproate intake during pregnancy is presented.
Subject(s)
Abnormalities, Drug-Induced , Adult , Anticonvulsants/adverse effects , Epilepsy/drug therapy , Fatal Outcome , Female , Heart Defects, Congenital/chemically induced , Heart Septal Defects, Ventricular/chemically induced , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Complications/drug therapy , Valproic Acid/adverse effectsABSTRACT
A 2-month-old infant with clinical features of hypothyroidism presented with hypocalcemic seizures. The maternal phenotypic features aroused the suspicion of pseudohypoparathyroidism which was confirmed in both by biochemical and endocrinological investigations. Though the child had clinical and radiological features to suggest hypothyroidism he had normal free thyroxine and only slightly elevated thyroid stimulating hormone levels. Special note is made of the intra and interpatient variability of this rare inherited disorder.
Subject(s)
Adult , Female , Humans , Infant , Male , Phenotype , Pseudohypoparathyroidism/geneticsABSTRACT
Neonatal parotitis is a rare condition. Infection of the parotid glad is more common than that of the submandibular glad. Dehydration is the most important predisposing factor for this. Most common organism responsible for this condition is Staphylococcus aureus. Untreated condition can lead to various complications.
Subject(s)
Humans , Infant, Newborn , Parotitis/diagnosisSubject(s)
Humans , Infant , Male , Pseudotumor Cerebri/etiology , Rickets/complications , Seizures/etiologyABSTRACT
Hyperimmunoglobulin E (HIE) syndrome is a primary immunodeficiency disorder characterized by recurrent bacterial infections in presence of very high serum Ig E levels. We are reporting a nine-year-old child with HIE syndrome and reviewing literature on this disease.