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1/33. De novo complete trisomy 5p: clinical report and FISH studies.

    We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific dna probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements.
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2/33. Acute disseminated encephalomyelitis in adults: a reappraisal of clinical, CSF, EEG, and MRI findings.

    OBJECTIVES: To establish an adequate definition of acute disseminated encephalomyelitis (ADEM) in adults, based on our clinical observations of a case-series. methods: Over a period of three years 10 adult patients with a para- or postinfectious disseminated (diffuse or multifocal) syndrome of the CNS fulfilling predefined strict criteria for the diagnosis of ADEM were encountered and systematically followed. RESULTS: The age ranged from 21 to 62 years, two were men. MRI was normal in 5 patients and only mildly abnormal in the remaining patients. CSF was normal in 5 patients and mildly abnormal in the remainder, EEG was abnormal in 7/8 patients. All patients survived and were followed over a period of 30 months (range: 8 to 48 months). Nine patients were left with some residual defects, consisting most often of a mild cognitive impairment. CONCLUSIONS: The EEG as an investigation of brain function can be crucial in establishing the organic nature of disease. MRI is important to exclude other diffuse or multifocal encephalopathies. However, in contrast to previous reports in the literature abnormal MRI should not be considered mandatory in adult ADEM. Difficulties in the diagnosis of ADEM are discussed and the importance of clinical and paraclinical findings for establishing the diagnosis is outlined.
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3/33. Extramedullary hematopoiesis in hereditary spherocytosis deficient in ankyrin: a case report.

    Hereditary spherocytosis (HS) is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver, and lymph nodes, but in HS the posterior paravertebral mediastinum is also commonly involved. A nonsplenectomized 74-year-old man with mild HS, with primary deficiency in ankyrin, was found by magnetic resonance imaging to have thoracic paravertebral hematopoietic masses. The patient showed high serum levels of erythropoietin, which may have played a role in the development of extramedullary hematopoietic masses through a continuous hematopoietic stimulus to erythroid cells in the propositus. The long-standing history of respiratory infections and of hypoxia in the propositus may have been an additional etiological factor.
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4/33. Clinico-pathologic conference: 18-month old boy with fever and severe respiratory infection.

    An 18-month-old boy with severe combined immunodeficiency (SCID) due to an IL2-y-receptor defect had a successful engraftment following a related mismatched allogenic bone transplant. He subsequently developed post-transplantation lymphoproliferative disorder, with severe respiratory infection which resulted in death. The case presentation is followed by a discussion with differential diagnosis of the clinical findings, and then by a discussion of the pathology found and the implications of this diagnosis.
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5/33. Asymmetric crying facies: the cardiofacial syndrome.

    A 5 1/2 month old female child presented with cyanosis and recurrent respiratory infection. Asymmetric facies was noticed on crying. On investigation an ostium secundum atrial septal defect with right partial anomalous pulmonary venous connection and severe pulmonary hypertension was detected. The association of asymmetric crying facies with congenital cardiac anomalies, known as cardiofacial syndrome, is presented here to highlight the use of this clinical sign as a marker to congenital anomalies.
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6/33. Congenital left-sided Bochdalek diaphragmatic hernia. Thoracoscopic repair--case report.

    The authors report the case of a 12-year-old girl who presented with a left-sided diaphragmatic hernia that was diagnosed after a pulmonary infection. CT scan confirmed a posterolateral diaphragmatic Bochdalek defect. The child underwent a thoracoscopic repair of the defect in 1997. The herniated contents included spleen, stomach, and intestine. The child was discharged from hospital the day after surgery. She has been followed up and is clinical and radiologically well.
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7/33. Central microtubular agenesis causing primary ciliary dyskinesia.

    Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic upper and lower respiratory tract symptoms. We report the diagnosis of primary ciliary dyskinesia associated with a circular ciliary beat pattern in three siblings. This beat pattern is consistent with a ciliary transposition defect, where a peripheral microtubule doublet is transposed to the center of the ciliary axoneme to replace the absent central microtubule pair. However, in these siblings, ultrastructural analysis of the cilia revealed an absence of the central microtubule pair only. This variant of transposition with a circular ciliary beat pattern has not been described previously. In addition, this defect, together with the transposition defect, may help explain the mechanism of the circular beat pattern and also the absence of situs inversus in these patients.
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8/33. The Coffin-Siris syndrome.

    A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.
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9/33. A case of mitochondrial myopathy and cleft palate.

    OBJECTIVE: To present a child born with both mitochondrial myopathy and cleft palate, outlining medical complications of this dual diagnosis-the first reported case in English literature. methods: A preterm Caucasian boy presented to the cleft palate clinic at birth for evaluation of a secondary cleft palate. Multiple anomalies were also identified, including rib fusions, ventricular septal dyskinesis, and mild hypotonia. Initial chromosome studies were unremarkable. RESULTS: After a multidisciplinary preoperative clearance at 11 months old, the infant underwent palatoplasty and muscle biopsy for evaluation of hypotonia. Upon extubation, he became apneic and unresponsive to anticholinesterase reversals. He was reintubated. The next morning, he was extubated uneventfully and was discharged home on postoperative day 2 (POD2). On POD7, he returned with signs of bronchitis, thereby prompting immediate reevaluation and treatment by his primary pediatrician. On POD13, he presented to an outlying emergency department with cyanosis and poor respiratory drive. Before intubation, he received a depolarizing muscle relaxation; cardiac arrest ensued and resuscitation was unsuccessful. pathology from the muscle biopsy and postmortem examination ultimately supported mitochondrial myopathy with dilated cardiomyopathy. CONCLUSION: mitochondrial myopathies are rare disorders suspected in patients demonstrating developmental delays, hypotonia, cardiomyopathy, conduction system defects, or genetic mutations. In these patients, postoperative complications can be lethal, especially when compounded (e.g., anesthetic drug reactions, respiratory compromise, surgical stress, and postoperative infections). General discussion and specific recommendations are provided.
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10/33. Pulmonary agenesis associated with dextrocardia, sternal defects, and ectopic kidney.

    Pulmonary agenesis is a rare embryological defect, usually unilateral, and is associated with skeletal, cardiovascular, and other anomalies. A 22-month-old girl was admitted to our clinic with recurrent pulmonary infections. A chest X-ray and multidetector computed tomography (MDCT) revealed pulmonary agenesis with dextrocardia, sternal defects, and a right pelvic ectopic kidney. We report on the first known case of right-sided pulmonary agenesis combined with isolated dextrocardia, sternal defects, and an ectopic kidney. The importance of MDCT for the diagnosis of pulmonary agenesis and associated other anomalies is demonstrated.
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