ABSTRACT
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.
Subject(s)
Abnormalities, Multiple/diagnosis , Child , Diaphragmatic Eventration/diagnosis , Female , Follow-Up Studies , Humans , Male , Poland Syndrome/diagnosis , Radiography, Thoracic , Risk Factors , Tomography, X-Ray ComputedABSTRACT
Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder is one of the differential diagnoses for refractory tonic spasms in infancy. The prognosis is generally good in hereditary hyperekplexia. Recent molecular studies have revealed many associated mutations in the glycine receptor alpha and beta subunit genes.
Subject(s)
Anticonvulsants/therapeutic use , Child, Preschool , Clonazepam/therapeutic use , Female , Humans , Infant, Newborn , Male , Reflex, Startle/genetics , Stiff-Person Syndrome/drug therapyABSTRACT
Residual ventricular septal defect after surgical repair for tetralogy of Fallot can occasionally be hemodynamically important requiring re-intervention. Transcatheter closure using ventricular septal defect devices is an attractive option for such defects. We describe two such cases where the Amplatzer duct occluder was used as an innovative, less costly alternative for closure of residual membranous ventricular septal defects. Complete occlusion of the residual ventricular septal defect with significant symptomatic improvement could be accomplished in both patients.
Subject(s)
Adolescent , Balloon Occlusion/adverse effects , Cardiovascular Surgical Procedures , Child , Coronary Angiography , Diagnosis, Differential , Echocardiography, Transesophageal , Female , Heart Septal Defects, Ventricular/diagnosis , Humans , Prosthesis Implantation/methods , Tetralogy of Fallot/surgeryABSTRACT
Jeune thoracic dystrophy is a rare autosomal recessive chondrodysplasia, first described by Jeune et al in 1955. Early death is usually the consequence of asphyxia with or without pneumonia. Here is reported a newborn with Jeune thoracic dystrophy and a right-sided diaphragmatic hernia.