Biomedical subjects
Publications and source records attributed to E Garrow.
Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had pulmonary malformations: pulmonary hypoplasia and two-lobed right lung. We report these rare associations with a brief review of the literature.
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Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.
We report the case of an infant with congenital colonic stenosis in the ascending colon and review the literature regarding this uncommon condition.
We present a case of new phenotypic findings not previously reported associated with a partial deletion of chromosome 11 with a break point at 23q - (46,XY,del(11)(q23). Partial deletion of chromosome 11q was first described by Jacobsen et al(4). Forty-eight patients have been reported during the last 30 years, with variable break points between 11q11 and 11qter. New phenotypic findings in our patient with the associated 11q deletion are imperforate anus, bilateral cataracts, and hypoplastic, multilobed lungs.
Congenital lobar emphysema is a cause of respiratory distress during infancy that may present a diagnostic problem. Recognition of this entity is rewarding, because excisional therapy is fairly specific and the results are satisfactory. We present two infants aged 7 weeks and 2 days with congenital lobar emphysema who were diagnosed and treated in our institution for the past two years. Published work is reviewed; diagnostic and treatment issues are discussed.
Myelopathy is an infrequently reported complication of bacterial meningitis. We report the case of a preterm neonate with group B streptococcal meningitis who developed acute transverse myelopathy with subsequent spinal cord cavitation noted by MRI. The destruction of the cerebellum and obstructive hydrocephalus resulted in a posterior fossa cyst.
The authors report on a 5-week-old boy who presented with bilious gastric aspirates. He became intolerant to feedings after 1 week of adequate feeding and passage of stools. Based on clinical and radiological findings, the diagnosis of intestinal obstruction was made. During laparotomy, atresia of the proximal jejunum was found. The lumen of the distal segment contained an intussusceptum. The blind ends were resected, and end-to-end anastomosis was performed.
A newborn premature male with hydrops fetalis and massive congenital ascites is presented. The ascites recurred despite repeated paracenteses. The ascites was possibly due to a portal vein obstruction caused by malposition of the portal vein and malrotation of the small intestine. This is the first case report of congenital ascites associated with malposition of the portal vein.
Skin sloughs and necrosis from hypertonic solutions may occur in premature infants receiving peripheral intravenous fluid therapy. A simple multiple puncture method is proposed to remove the infiltrate and prevent skin sloughs.
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Fatal sepsis has been reported with increasing frequency following splenectomy for trauma. Efforts to save the spleen were made in 17 children with blunt abdominal trauma. Two patients required splenectomy, but 15 were managed successfully by splenic repair. No patient required reoperation, and there were no complications. Follow-up scans were remarkably normal. It is concluded that splenic lacerations are usually amenable to suture repair, and splenorrhaphy, not splenectomy, is the treatment of choice for splenic injury.
A review of the literature and a report of a case of myxoma of the maxilla in a 1-year-old Negro girl have been presented. This case is interesting because of its rarity at this age and its location. Originally, a Weber-Ferguson approach was considered. However, a transoral approach provided excellent access for complete visualization and removal of the tumor. This reinforces the advantages to the patient that result from the cooperation of different surgical services.
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We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.
A 2320-g male infant was delivered at 35 weeks gestation to a mother who had polyhydramnios. He had a combination of congenital localized absence of skin, unilateral hydronephrosis, and hydroureter due to ureterovesical obstruction, and nonbilious vomiting due to pyloric atresia. Blistering of the skin developed after birth. Epidermolysis bullosa simplex was confirmed by electron microscopy of a skin biopsy specimen. We describe this patient, who had three unusual manifestations of epidermolysis bullosa.
Over the past two years forty infants with hypertrophic pyloric stenosis have been operated on using a supraumbilical transverse midline skin incision with retraction of the two rectus muscles apart. This incision has given us good exposure, has improved the delivery of the pylorus, produced a strong closure, and given a good cosmetic result. We propose this incision as an alternative to be used in the operative approach to the pylorus in the treatment of hypertrophic pyloric stenosis.