Cases reported "Abnormalities, Multiple"

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1/47. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of coffin-lowry syndrome.

    An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of coffin-lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental retardation, associated in the first sib with transient autistic behaviour. Some dysmorphic features of CLS (in particular forearm fullness and tapering fingers) and many atypical findings (some of which were reminiscent of FG syndrome) were observed as well. The moderate phenotypic expression of this mutation extends the CLS phenotype to include less severe mental retardation and minor, hitherto unreported signs. The missense mutation identified may be less deleterious than those previously described. As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue.
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2/47. Thoracic epidural analgesia via the caudal approach using nerve stimulation in an infant with CATCH22.

    PURPOSE: To illustrate insertion of an epidural catheter via caudal route in a small infant under electrical stimulation guidance. CLINICAL FEATURES: A six month old boy, weighting 4.25 kg, with a diagnosis of CATCH22 (Cardiac abnormality/abnormal faces, T cell deficit due to thymic hypoplasia, cleft palate, hypocalcemia due to hypoparathyroidism resulting from 22q11 deletion) was scheduled for fundoplication and gastrostomy tube (G-tube) insertion. A combined light general anesthesia and continuous epidural anesthesia technique was selected. Following induction of general anesthesia and tracheal intubation with 1.5 mg midazolam, 10 microg fentanyl and 10 mg succinylcholine, a 16G intravenous catheter was inserted into the caudal space. A 19G epidural catheter (Arrow Flextip Plus) epidural catheter was then inserted up cranially. A low electrical current (1-10mA) was then applied through the catheter. The level of motor movement was advanced from the lower limb muscles to the upper abdominal muscles as the catheter was threaded cranially. After 19 cm of epidural catheter had been inserted, intercostal muscle movement (T9-10 level) was observed at 4.2mA. The tip of the catheter was later confirmed to be at the T9-10 interspace by radiographical imaging. The patient awakened without distress and the trachea was extubated the same evening. The infant was discharged to the ward next morning with good pain relief from a continuous epidural infusion of bupivacane 0.1% with 1 microg x ml(-1) at 1.6 ml(-1). CONCLUSION: Epidural stimulation may help placement of the epidural catheter at the appropriate dermatome for effective anesthesia and analgesia.
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3/47. The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus.

    A male infant was referred to our department because of lumbosacral meningomyelocele, dorsal enteric fistula and imperforate anus. The mother had received a parenteral drug containing estradiol benzoate and progesterone for inducing abortion in the first trimester. She also used an anal pomade containing triamcinolone and lidocaine-HCl during the pregnancy for hemorrhoids. Sigmoid end colostomy was performed after meningomyelocele repair. On abdominal exploration a wandering spleen was detected but no other anomalies. Two months later, an abdominoperineal pullthrough was performed, and the patient was discharged well after three weeks. Our case is the sixth that had split notochord syndrome associated with dorsal enteric fistula and imperforate anus. Additionally, penoscrotal transposition and wandering spleen were present in this case. To our knowledge, these associated anomalies have been extremely rare.
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4/47. Double uterus with unilaterally obstructed hemivagina and ipsilateral renal agenesis: a variety presentation and a 10-year review of the literature.

    A double uterus with a unilaterally obstructed hemivagina is a rare condition, usually associated with ipsilateral renal agenesis. Herein, we report two cases, the first case presenting with abdominal pain and pelvic mass. Hemihysterectomy was performed leaving the contralateral uterus intact. The second case presented with chronic foul smelling vaginal discharge. The diagnosis was a double uterus and pyocolpos of the left vagina. Excision of the left vaginal septum and drainage were performed. The postoperative course of both cases was uneventful and the patients were well at the six-week follow-up. An accurate diagnosis, appropriate management and the prevention of future fertility problems are discussed.
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5/47. Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association.

    We report on malakoplakia of the colon observed in a six month old girl in a setting of severe combined immunodeficiency (SCID) and a malformational syndrome termed CHARGE association. By the age of six months, hemorrhagic diarrhea had developed, and multiple ulcers were seen at colonoscopy. The biopsy specimen showed ulcerating malakoplakia. Immunodeficiency was primarily reflected by deprivation of CD4 cells in the peripheral blood, and CT scans failed to detect structures consistent with a normal thymus. There were also polylymphadenopathy and chronic erythroderma. The lymph node showed extreme hypoplasia of the follicular cortex and marked expansion of the paracortex. B cell counts progressively declined, and plasma cells were absent both in intact mucosa of the colon and in a lymph node. The patient died at eighteen months of respiratory failure following recurrent airway infections. Pediatric malakoplakia of the colon, though rare, may be regarded as an example of opportunistic bacterial infection in an immunocompromised host. Combined immunodeficiency (CID) has to be considered in such instances, in particular when malformational syndromes coexist affecting the development of the thymus.
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6/47. phenotype of a patient with pure partial trisomy 2p(p23-->pter).

    We present the case of a 7-month-old girl with the karyotype 46,XX, der(13) t(2;13)(p23;p11.2).ish der(13)(wcp2 ) de novo. Painting confirmed that the additional segment on 13p was of chromosome 2 origin, resulting in trisomy 2p23 -->2pter. The child had a prominent forehead with a flat hemangioma, depressed nasal bridge, protruding tongue, posteriorly angulated ears, esotropia with poor abduction of the right eye, bilateral severe myopia (-5.5 D), retinal hypopigmentation, foveal hypoplasia, and striking left optic nerve hypoplasia. She also had pectus excavatum, a protruding abdomen with diastasis recti, generalized hypotonia, delayed fine and gross motor development, grade II reflux on the left side, and grade III-IV reflux on the right side. An EEG showed epileptiform discharges. Computed tomographic scan of the brain showed decreased white matter, but magnetic resonance imaging showed normal results.
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7/47. An occipital encephalocystocele involving both sides of the lateral ventricles.

    We reported a rare case of an occipital encephalocystocele linked by bilateral posterior horns of the lateral ventricles. The subject was a newborn girl with a large occipital cephalocele (6 x 9 cm in diameter) covered with alopetic skin. cerebrospinal fluid leakage was not observed. The fontanel was soft, but a characteristic flat forehead was noted. Neither neurological deficits nor cardiopulmonary dysfunctions were evident at birth. Magnetic resonance images revealed that the sac contained the occipital lobes and that the cavity was linked by bilateral posterior horns. Agenesis of the corpus callosum and dysgenesis of the falx cerebri were associated. Fifteen days after birth, the cephalocele was removed surgically. Cutting sections revealed that the cephalocele contained enlarged bilateral posterior horns and cerebral hemispheres. The postoperative course was uncomplicated by hydrocephalus or infection, and the patient was discharged without any neurological deficit 22 days after surgery. Her milestone was survival; and at present 12 months after surgery, she is alive with moderate developmental retardation.
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8/47. A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation.

    Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by aplasia cutis congenita (ACC) of the scalp and variable degrees of terminal transverse limb defects. In this article, a newborn infant diagnosed as AOS for a large scalp defect, acrania, and finger malformations is presented. The patient was hospitalized and the scalp defect was successfully repaired with several surgical operations. During the hospitalization septicemia, meningitis, and convulsions developed, but they were successfully treated with appropriate antibiotics, antifungal, and anticonvulsive agents, He was discharged five months after admission to the hospital. Now, he is 3 years old, and has microcephaly, moderate mental retardation, left spastic hemiplegia, and epilepsy.
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9/47. smith-magenis syndrome with bilateral vesicoureteral reflux: a case report.

    smith-magenis syndrome (SMS) is a syndrome of multiple malformations caused by an interstitial deletion of chromosome 17p11.2. We report the case of an 8-year-old boy with SMS. down syndrome was initially suspected in infancy based on the findings of generalized hypotonia, flat midface, and upslanting palpebral fissures. His sleep had been disturbed since infancy, and self-injurious behavior developed at 2 years. When he was 8 years old, these unusual neurobehavioral features led to suspicion of SMS, and chromosome analysis showed the 17p deletion, which was confirmed by fluorescence in situ hybridization of the SMS region. Bilateral vesicoureteral reflux, grade IV, was found at the same time, and he underwent bilateral ureteroplasty. The postoperative course was smooth and he was discharged with antibiotic prophylaxis. His sleep disturbance improved after treatment with melatonin. A high index of suspicion is needed for the timely diagnosis of SMS. patients should be thoroughly evaluated for associated complications both at the time of diagnosis and at regular follow-up.
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10/47. Successful repair of the esophagus in type-IV laryngo-tracheo-esophageal cleft using interposed jejunum.

    The authors present a female patient of type-IV laryngo-tracheo-esophageal cleft (LTEC) who survived the definitive operation and was discharged from the hospital. Separation of the trachea and the esophagus was very difficult because they formed almost cylindrical common channel and multiple fistulae occurred after the operation. After multiple attempts of closure of the fistulae, one fistula near the carina remained, and the esophagus was reconstructed using interposed jejunum leaving some part of the esophagus connected to the fistula. Now she is practicing oral feeding. This is the fourth long-term survivor of type-IV LTEC in the international literature.
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