Cases reported "Down Syndrome"

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1/60. ichthyosis and psoriasis in a patient with down syndrome.

    A 24-year-old man with down syndrome presented with prominent ichthyosiform skin on his extremities and psoriatic plaques on his chest, back and scalp. The late onset of his ichthyosis without family history suggested that it was not a heritable form but was associated down syndrome. Such an association with ichthyosis and psoriasis has not been described previously.
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keywords = chest
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2/60. Esophageal aperistalsis following fundoplication in a patient with trisomy 21.

    Gastrointestinal abnormalities are frequent in patients with down syndrome (DS), gastroesophageal reflux (GER) being prominent among them. A 10-year-old boy with DS presented with progressive daily vomiting and an upper gastrointestinal study documenting reflux. A laparoscopic Nissen fundoplication was performed uneventfully. Postoperative inability to take solids was noted and a contrast study showed a tight gastroesophageal junction and poor peristalsis. Persistent symptoms were not alleviated by esophageal dilatation, despite a relaxing lower esophageal sphincter. Esophageal manometry documented complete esophageal aperistalsis. A percutaneous endoscopic gastrostomy was placed and the patient required long-term tube feeds. Esophageal aperistalsis is a rare condition in DS, likely superimposed on GER. fundoplication may adversely affect the already abnormal esophageal motility in these children. Esophageal manometry preoperatively will identify motility disorders and assist in selecting the best management for these patients.
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ranking = 1.3585162949799
keywords = upper
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3/60. Jejunal angiomatoses causing small bowel obstruction in a patient with down syndrome: a case report.

    Gastrointestinal vascular anomalies are extremely uncommon. We describe a patient with down syndrome who presented with acute abdominal pain due to a mixed capillary and venous vascular malformation involving the proximal jejunum.
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ranking = 4.4442719353441
keywords = abdominal pain
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4/60. Down's syndrome with mucosa-associated lymphoid tissue, thyroid lymphoma and cerebral infarction.

    Primary lymphoma of the thyroid gland is rare. The histopathology of most low-grade thyroid lymphomas is of a mucosa-associated lymphoid tissue (MALT) type. A typical feature of this type of lymphoma is a close lymphocyte-epithelium interaction. It tends to appear in patients with a history of autoimmune disease or chronic inflammatory disorders. A clinical picture of hypothyroidism may be present. hyperthyroidism associated with thyroid lymphoma is also rare. Thyroid lymphoma could be misdiagnosed as lymphocytic thyroiditis or small cell anaplastic carcinoma. It is rarely reported in patients with Down's syndrome. In this report, we describe a Down's syndrome patient with MALT thyroid lymphoma and cerebral infarction. The patient, a 42-year-old man, presented with chest discomfort and bilateral leg weakness of one week's duration. physical examination of his neck showed a right-sided mass lesion. neurologic examination revealed decreased muscle power and hyperreflexia in both lower legs. Babinski's sign was present bilaterally. Endocrinologic studies showed subclinical hypothyroidism. A thoracolumbar radiograph showed disc space narrowing. Thyroid sonography revealed a hypoechoic mass lesion in the right lobe of the thyroid gland. Fine needle aspiration cytology of the neck mass demonstrated a large amount of lymphocyte infiltration. An I131 thyroid scan and 24-hour uptake revealed the possibility of thyroid malignancy at the upper poles of both thyroid lobes. Computerized tomography of the brain revealed a lacunar infarct in the posterior aspect of the left putamen. magnetic resonance imaging of the lumbar spine revealed a healed L4 compression fracture with L4-5 retrolithesis. The patient later underwent a right total thyroidectomy. The pathologic finding showed MALT lymphoma. The patient received steroid suppression therapy, and after nine months of treatment and follow-up, he developed clinical hypothyroidism. Neither local tumor recurrence nor distant metastasis was found.
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ranking = 2.3585162949799
keywords = upper, chest
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5/60. Coexistent insulin dependent diabetes mellitus and hyperthyroidism in a patient with Down's syndrome.

    The prevalence of thyroid disease is increased in Down's syndrome. Compared with adults, thyroid dysfunction in children with Down's syndrome is less frequently reported. insulin dependent diabetes mellitus is also uncommon in Down's syndrome children. Coexistent insulin dependent diabetes mellitus and hyperthyroidism in Down's syndrome was only reported once previously in literature. We report an 8-year-old girl with Down's syndrome that had polyuria, polydipsia, abdominal pain and urinary incontinence one and half a month prior to admission. physical examination revealed typical face of Mongolism and tachycardia. Thyroid glands were not palpable. Laboratory data revealed diabetic ketoacidosis with plasma glucose: 860 mg/dl. She had thyroid hyperfunction with TSH: < 0.1 microU/ml, T3: 219.7 ng/dl, T4: 15 micrograms/dl. Thyroid autoimmune antibodies were also increased. There was markedly increased radiotracer uptake in the bilateral thyroid glands in Tc-99 thyroid scan. We suggest that Down's syndrome children with insulin dependent diabetes mellitus should be evaluated carefully for thyroid function and autoimmune disease.
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ranking = 4.4442719353441
keywords = abdominal pain
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6/60. tracheal stenosis and congenital heart disease in patients with down syndrome: diagnostic approach and surgical options.

    Upper airway obstruction is a prevalent feature in patients with down syndrome. However, these patients may be completely asymptomatic in the early months of life. The recognition of a problem within the airway quite often occurs when these children present for cardiac surgery, diagnostic radiography with sedation, or during the induction and intubation for anesthesia. tracheal stenosis is rare in the general population, but is seen somewhat more frequently in patients with down syndrome. The incidence of tracheal stenosis in children with congenital heart disease, which is seen in 40% of patients with down syndrome, has been reported to be 1.2%. patients with down syndrome also tend to have other upper airway obstructive pathology such as nasopharyngeal, oropharyngeal, and subglottic compromise. These entities, combined with the high incidence of cardiac disease, put these children at risk for acute and chronic cardiopulmonary compromise. We present two patients with down syndrome and congenital heart disease who were found to have significant tracheal stenosis at the time of their cardiac surgery. The perioperative management of their airway defects including diagnostic evaluation and treatment modalities are discussed.
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ranking = 1.3585162949799
keywords = upper
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7/60. cheyne-stokes respiration as an additional risk factor for pulmonary hypertension in a boy with trisomy 21 and atrioventricular septal defect.

    Central ventilation disorders(1) and airway obstruction(2) with chronic hypoxemia are causally related to cor pulmonale. Pulmonary vascular resistance is often reversible, and hypoxic pulmonary hypertension often responds to treatment with supplemental oxygen. oxygen therapy during sleep may be useful as a temporary palliative treatment in children with obstructive sleep apnea syndrome (3) and cheyne-stokes respiration (CSR) in congestive heart failure(4). This type of sleep-related breathing disorder is characterized by periodic crescendo-decrescendo alterations in tidal volume. Proposed mechanism include an increased central nervous system sensitivity to changes in arterial PCO2 and PO2, a decrease in total body stores of CO2 and O2 with resulting instability in arterial blood gas tensions in response to changes in ventilation, and an increased circulatory time. Clinical features of obstructive and central sleep-related breathing disorders include daytime somnolence, unusual breathing patterns, failure to thrive, and cyanosis masquerading as cyanotic congenital heart disease(2). down syndrome is often associated with cardiac malformations, left to right shunt, and the development of pulmonary hypertension(5). However, this may be exacerbated by sleep-related breathing disorders, as illustrated in the following case report.
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ranking = 966.7201021032
keywords = breathing
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8/60. Down's syndrome, precocious puberty, and transverse vaginal septum: an unusual cause of abdominal pain.

    hematocolpos should be considered in adolescent girls who present with lower abdominal pain, a pelvic mass, and primary amenorrhea. The authors describe a rare case of a young child with Down's syndrome, precocious puberty, and hematocolpos caused by a transverse vaginal septum. The diagnosis was facilitated using a combination of computed tomography and ultrasound scanning. J Pediatr Surg 36:641-643.
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ranking = 22.221359676721
keywords = abdominal pain
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9/60. pulmonary edema in 6 children with down syndrome during travel to moderate altitudes.

    OBJECTIVE: Children with down syndrome (DS) are living longer and are increasingly participating in recreational activities. When a child with DS was diagnosed with high-altitude pulmonary edema (HAPE), this study was undertaken to determine whether and under what circumstances children with DS develop HAPE. DESIGN: A retrospective review of the medical records of Children's Hospital, Denver, colorado was performed for children with a discharge diagnosis of HAPE. Diagnostic criteria for HAPE included the presence of crackles or frothy sputum production on examination, hypoxemia, chest radiograph findings consistent with pulmonary edema, and rapid clinical improvement after descent or oxygen therapy. RESULTS: A total of 52 patients with HAPE were found of whom 6 also had DS. The age range of the children with DS was 2 to 14 years. HAPE developed at altitudes ranging from 1738 to 3252 m. Four children developed HAPE within 24 hours of arrival to altitude. Three children had chronic pulmonary hypertension, and 4 had either an existing cardiac defect with left-to-right shunt or previously had a defect with left-to-right shunt that had been repaired. One child had Eisenmenger syndrome with chronic right-to-left shunting of blood. Five children had preexisting illnesses before travel to altitude. CONCLUSION: Children with DS often have medical problems such as chronic pulmonary hypertension, frequent infections, and pulmonary vascular overperfusion and injury from existing or previous cardiac defects. These problems all may be viewed as risk factors for HAPE and thus result in the rapid development of HAPE at low altitudes. Care should be taken when traveling to even moderate altitudes with children with DS.
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ranking = 1
keywords = chest
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10/60. Morgagni hernia with down syndrome: a rare association -- case report and review of literature.

    Morgagni hernia is a rare diaphragmatic hernia accounting for only 2% of the congenital diaphragmatic defects. A case of Morgagni hernia was diagnosed radiologically in a 12-months-old male with down syndrome, with recurrent respiratory distress and chest deformity. The 2-dimensional echocardiography was normal. The diagnosis of Morgagni hernia was confirmed by barium studies. The patient underwent a corrective surgery at 18 months of age following which his symptoms subsided. literature review revealed only 18 cases of Morgagni hernia with down syndrome reported till date, with age of presentation varying from neonatal age group to 12 years of age. The mode of presentations varied from asymptomatic detection to severe respiratory distress. The possible mechanism of association and its clinical implication has been discussed. The case emphasises a need for diaphragmatic hernia to be looked for as a possible cause of respiratory distress in down syndrome.
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