Subject(s)
Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Urea/metabolism , Blood Chemical Analysis , Child, Preschool , Disease Progression , Fatal Outcome , Female , Humans , Liver Function Tests , Magnetic Resonance Imaging , Ornithine Carbamoyltransferase Deficiency Disease/genetics , Ornithine Carbamoyltransferase Deficiency Disease/metabolism , Tomography, X-Ray ComputedSubject(s)
Genetic Counseling , Genetic Testing , Public Health Administration , Delaware , Humans , Prenatal DiagnosisABSTRACT
Segmental spinal dysgenesis is characterized by focal agenesis or dysgenesis of the lumbar or thoracolumbar spine, with focal abnormality of the underlying spinal cord and nerve roots. Children are symptomatic at birth with lower limb deformities and neurological deficits that may be segmental. Myelography and computed tomography disclose hypoplastic or absent vertebrae and atrophic or absent neural elements adjacent to the bony deformity; the spinal column distal to the abnormality may be partially bifid, but is otherwise normal. Spinal ultrasonography was a helpful diagnostic adjunct in one patient. Surgery may be helpful in decompressing partially functioning spinal cord or nerve roots, but may exaggerate the tendency toward spinal instability. The embryology of this abnormality is not clear, but two children had other anomalies suggesting a spinal dysraphic syndrome, and its cause is probably related to a segmental maldevelopment of the neural tube.
Subject(s)
Spinal Cord/abnormalities , Spinal Nerve Roots/abnormalities , Spine/abnormalities , Female , Humans , Infant, Newborn , Male , Myelography , Spinal Cord/diagnostic imaging , Spinal Nerve Roots/diagnostic imaging , Spine/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Four children with previously repaired myelomeningoceles presented toward the end of the first decade or early in the second decade of life with deteriorating lower-extremity and bladder function. Myelography and computerized tomography scanning demonstrated irregular filling defects at the area of the myelomeningocele repair, and surgical exploration disclosed dermoid tumors that were adherent to the placode and adjacent roots. Dermoid tumors should be considered in the differential diagnosis of neurological deterioration in children with a repaired myelomeningocele.
Subject(s)
Dermoid Cyst/etiology , Meningomyelocele/complications , Spinal Cord Neoplasms/etiology , Adolescent , Child , Dermoid Cyst/physiopathology , Female , Humans , Male , Meningomyelocele/physiopathology , Meningomyelocele/surgery , Spinal Cord Diseases/physiopathology , Spinal Cord Neoplasms/physiopathologySubject(s)
Ectromelia/genetics , Poland Syndrome/genetics , Syndactyly/genetics , Female , Humans , MaleABSTRACT
Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly.
Subject(s)
Abnormalities, Multiple/diagnosis , Hand Deformities, Congenital , Abnormalities, Drug-Induced/diagnosis , Abnormalities, Multiple/etiology , Acrocephalosyndactylia/diagnosis , Amniotic Band Syndrome/diagnosis , Bone Diseases, Developmental/diagnosis , Facial Bones/abnormalities , Fingers/abnormalities , Genes, Recessive , Genetic Linkage , Humans , Orofaciodigital Syndromes/diagnosis , Pancytopenia/diagnosis , Radius/abnormalities , Skull/abnormalities , Syndactyly/diagnosis , Syndrome , Thrombocytopenia/diagnosis , Ulna/abnormalities , X ChromosomeABSTRACT
The charts of 111 children with meningomyelocele were reviewed. Ninety-eight had shunted hydrocephalus. Twenty-five of 111 children (24 of 98 children with shunts) had seizures. Age at onset and type of seizure varied. Brain malformation (other than Arnold-Chiari), shunt infection, and perhaps number of shunt revisions were important risk factors in seizure development. The children with seizures were more likely to be developmentally delayed.
Subject(s)
Meningomyelocele/complications , Seizures/etiology , Anticonvulsants/therapeutic use , Bacterial Infections/complications , Brain/abnormalities , Cerebrospinal Fluid Shunts , Child , Child, Preschool , Developmental Disabilities/etiology , Female , Humans , Hydrocephalus/complications , Infant , Infant, Newborn , Male , Seizures/drug therapyABSTRACT
A newborn male infant with multiple congenital malformations including lethal cardiac malformations and severe ophthalmic malformations is described. The infant was exposed in utero to hydantoin. There is no other identifiable cause for the malformations apparent in the infant's or his family's history.
Subject(s)
Abnormalities, Drug-Induced/diagnosis , Abnormalities, Multiple/chemically induced , Eye Diseases/chemically induced , Heart Defects, Congenital/chemically induced , Infant, Premature, Diseases/chemically induced , Maternal-Fetal Exchange/drug effects , Phenytoin/adverse effects , Adult , Female , Heart Septal Defects, Atrial/chemically induced , Heart Septal Defects, Ventricular/chemically induced , Humans , Infant, Newborn , Male , PregnancyABSTRACT
Two cases of pediatric blue rubber bleb nevus syndrome are reported. The main features of the disease are rubbery blue cutaneous nevi and hemangiomatous, frequently hemorrhagic malformations of the bowel wall. Polypoid filling defects were seen throughout the bowel on barium studies. This entity should be considered in the differential diagnosis of polyposis, and the skin should be carefully examined for nevi when multiple bowel polyps are demonstrated, especially in patients with gastrointestinal bleeding.
Subject(s)
Gastrointestinal Neoplasms/diagnostic imaging , Intestinal Polyps/diagnostic imaging , Nevus, Pigmented/diagnostic imaging , Skin Neoplasms/diagnostic imaging , Adolescent , Child, Preschool , Diagnosis, Differential , Female , Gastrointestinal Hemorrhage/diagnostic imaging , Hemangioma, Cavernous/diagnostic imaging , Humans , Male , Radiography , SyndromeABSTRACT
Twenty-four children with cutaneous hemangiomas were treated with corticosteroids. The indications for therapy included interference with important bodily functions by the hemangioma, thrombocytopenia related to the hemangioma, or serious cosmetic effects secondary to the hemangiomas. Five children had no improvement, twelve had possible improvement, five had probable improvement and two had definite improvement while on corticosteroids. One child had growth retardation as a complication of corticosteroids; this was reversed when the medication wa dicsontinued.
