Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: Experience with 80 patients

ObjectiveTo review the urological management and outcomes of patients with the OEIS (omphalocele, exstrophy of the bladder, imperforate anus, spinal abnormalities) complex.Patients and methods80 patients with the OEIS complex managed at a single institution between 1974 and 2009 were reviewed.Results37 had initial closure at our institution (2 failed – 5%); 22 with successful closure were referred for incontinence; 15 failed closure at an outside institution (2 of whom are awaiting closure); 6 are skin-covered variants. Osteotomy was performed in 39/43 (91%) with successful closure versus 8/17 (47%) who failed initial bladder closure. 40 were dry (56%), but most needed additional urinary reconstruction: 2 had small bowel neobladders; 32 (84%) had augmentation cystoplasty; 30 (79%) had a continent catheterizable channel; only 9 (24%) were continent with an intact urethra. Bladder neck reconstruction allowed dryness in 7 (18%). 45 patients had XY genotype – 19 had female gender assignment at birth. All patients with XX genotype had female gender assignment.ConclusionsOsteotomy improves success of initial bladder closure. A bladder neck procedure, catheterizable channel, and augmentation cystoplasty will be required in the majority of patients to attain urinary dryness.     

Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex

Omphalocele-exstrophy of the bladder (cloaca)-imperforate anus-spinal defects (OEIS) complex describes a rare grouping of more commonly occurring component malformations. We report two cases of OEIS complex diagnosed prenatally by ultrasound and magnetic resonance imaging (MRI). In both cases, OEIS complex was suspected by conventional sonography in the second trimester, and fetal MRI was performed at 27 and 32 weeks of gestation. Conventional sonography revealed low abdominal wall mass, spina bifida, absent bladder and ambiguous genitalia, but those findings were inconclusive. Using fetal MRI, we were able to detect omphalocele, imfraumbilical mass connected to gut tract, absent bladder, ambiguous external genitalia and spinal defect. Our findings suggest that fetal MRI is a useful tool for prenatal diagnosis of OEIS complex. MRI helps prenatal counseling and planning of postnatal early treatment strategy.     

Congenital short colon associated with imperforate anus (Zachary-Morgan syndrome)

Two cases of short colon with imperforate anus are presented. Terminal colostomy is the therapy of choice in the neonatal period. As the definitive final procedure, trimming into a tubular structure and abdomino-perineal pull-through operation is suggested. A survey is given of similar cases reported in the literature.     

Progressive subglottic stenosis in a child with Pallister‐Killian syndrome

Pallister‐Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis.     

Esophago‐gastric motility and nutritional management in a child with ATR‐X syndrome

X‐linked alpha thalassemia mental retardation (ATR‐X) syndrome is an X‐linked recessive disorder that often involves gastrointestinal symptoms. Aspiration pneumonia related to gastroesophageal reflux has been reported as the major cause of death, but gastrointestinal function has not been well investigated. The present report describes a child with ATR‐X syndrome who suffered from periodical episodes of refractory vomiting. We investigated the function of upper alimentary tract and found that esophago‐gastric dysmotility and severe gastric volvulus were the major causes of gastrointestinal symptoms. This child was surgically treated with anterior gastropexy and jejunal alimentation through gastrostomy, and the symptoms were relieved with good weight gain. This report may provide insight into the gastrointestinal function and nutritional management in children with ATR‐X syndrome.     

Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child

A boy aged 2 years, born prematurely to Gipsy parents, presented with hypopigmentation severe encephalopathy with athetoid movements, bilateral ocular anomalies including cloudy corneas, iris atrophy and cataracts, as well as dental defects. Ultrastructural examination of the skin disclosed scare melanosomes. Although the neurologic and ocular anomalies might have been accounted for by his extreme prematurity, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the oculocerebral hypopigmentation syndrome (Cross syndrome).     

Polymorphous hemangioendothelioma in a child with acquired immunodeficiency syndrome (AIDS)

Polymorphous hemangioendotheliomas (PH) are rare and borderline malignant tumors that are among the wide range of vascular tumors. We report here a 13-year-old male presenting with a history of weight loss, opportunistic infections, and lymphadenopathy. He was determined to be HIV positive and to have acquired immunodeficiency syndrome (AIDS). A biopsy of a femoral node was diagnostic of PH. His systemic lymphadenopathy appeared to resolve with anti-retroviral therapy. This tumor should be considered within the differential diagnoses of pediatric and immunocompromised patients.     

Autoimmune hepatitis in a child presenting with hepatopulmonary syndrome (HPS)

HPS has been described in 9–20% of children with end‐stage liver disease. We present a case of a previously, asymptomatic nine‐yr‐old incidentally found to have low oxygen saturation. Physical exam was remarkable for digital clubbing, splenomegaly and orthodeoxia. Laboratory evaluation revealed a low platelet count, hyperammonemia, and prolonged coagulation studies. Sonography showed evidence of splenomegaly and portal venous hypertension. High resolution CT thorax and CTA were normal. HPS was confirmed by agitated saline contrast enhanced echocardiography and Tc‐99m MAA scan with evidence of intrapulmonary vascular dilatations. Liver biopsy was performed and consistent with autoimmune hepatitis. A high clinical index of suspicion should be maintained for HPS in pediatric patients who have unexplained hypoxemia as typical signs and symptoms of severe liver disease are often absent. In this report, we discuss a case of HPS complicated AIH in a pediatric patient and review the relevant literature.     

Medulloblastoma in a child with down syndrome: Long‐term remission with multimodality treatment

A 4¾‐year‐old male with Down syndrome (DS) presented with unsteady gait and fatigue. Neuroimaging revealed a cerebellar mass with concomitant obstructive hydrocephalus and additional metastatic lesions. He was successfully treated and is still in complete remission 5 years from diagnosis. The present case illustrates that, although not yet reported, medulloblastoma can also occur in patients with DS. Pediatr Blood Cancer 2009;53:1150–1151. © 2009 Wiley‐Liss, Inc.     

Late cutaneous porphyria in a child with Down's syndrome (author's transl)

The authors report the case of a patent form of cutaneous or late porphyria in a 4 1/2 year-old child with a reduced activity of the erythrocyte uroporphyrinogene decarboxylase (URO D). This genetically transmitted disease (the father having the same enzyme defect) only appears after the occurrence of an external factor, usually alcohol and estrogens, rarely acute hepatitis with the presence of HAV antibodies as in this case of Down's syndrome. The same clinical picture may be accompanied by various hepatic lesions and, occasionally, by a deficiency of erythrocyte URO D. This justifies that one distinguish generalized familial forms from sporadic forms with exclusive hepatic involvement.     

Spontaneous tumor lysis syndrome in a child with T‐cell acute lymphoblastic leukemia

We report a 5‐year‐old female who presented with unexplained acute renal failure (ARF) and hyperuricemia and who was subsequently diagnosed of T‐cell acute lymphoblastic leukemia (ALL). Peripheral smear was initially unremarkable. She required hemodialysis. Two weeks later, peripheral smear showed 40% blasts and bone marrow demonstrated T‐cell ALL. Our case was the fifth and the youngest case of ALL with spontaneous tumor lysis syndrome. However, in contrast to previous reports in ALL or acute myeloid leukemia, our patient did not have blasts noted on periphereal blood smear and her white blood cell count and serum lactate dehydrogenase level were normal on admission, a time when dialysis‐dependent ARF and severe hyperuricemia were present. Occult hematologic malignancy should be considered in cases of ARF and hyperuricemia of unknown etiology even when peripheral hematologic findings are not informative. Pediatr Blood Cancer 2010;54:773–775. © 2009 Wiley‐Liss, Inc.     

A genome‐wide analysis of colorectal cancer in a child with Noonan syndrome

Noonan syndrome (NS) is a developmental syndrome caused by germline mutations in the Ras signaling pathway. No association has been shown between NS and pediatric colorectal cancer (CRC). We report the case of CRC in a pediatric patient with NS. The patient underwent whole genome sequencing. A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. No known hereditary cancer syndromes were identified. Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*). This report highlights the complexity of Ras signaling and the interplay between developmental syndromes and cancer.     

Flexion contractures in a diabetic child (Rosenbloom syndrome)

Limited movement in the fingers and in other joints of a diabetic boy is described. Although a slight contracture of the little finger was observed when diabetes was diagnosed, the progressive nature of the process was only clarified after 8 years. According to the results of the clinical findings the changes are the consequence of rigidity of the connective tissue. The vital capacity of the lungs was also diminished in our patient.