1/80. A patient with multiple sclerosis and Down's syndrome with a rare paroxysmal symptom at onset.Down's syndrome (DS) is often associated with autoimmune diseases, although an association with multiple sclerosis (MS) has not been previously reported. A 49-year-old male with DS experienced progressively worsening gait and bladder dysfunction. Following Poser criteria, the patient was diagnosed with laboratory-supported definite MS. Ten days following diagnosis the patient experienced dysestetic paroxysmal pain at the pelvic level (an uncommon complaint in MS) which was initially addressed with carbamazepine, resulting in mild relief and adverse effects consisting of increased motor deficit and decreased daytime alertness. A titration combination of lamotrigine and gabapentin, two relatively new antiepileptic drugs which have been utilized individually for a number of neurological symptoms, resulted in significant reduction in pain frequency and intensity, with no adverse effects. This case study presents details of the first reported association of DS and MS, between which the pathogenetic relationship remains unclear. The presence of a rare symptom complaint in MS, as well as the effective combination of lamotrigine and gabapentin for treating this symptom, without adverse effects is an additional interesting aspect of this case.- - - - - - - - - - ranking = 1keywords = pain (Clic here for more details about this article) |
2/80. 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.- - - - - - - - - - ranking = 0.47970362652985keywords = chest (Clic here for more details about this article) |
3/80. 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.- - - - - - - - - - ranking = 0.5971966166163keywords = upper (Clic here for more details about this article) |
4/80. 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.- - - - - - - - - - ranking = 0.5keywords = pain (Clic here for more details about this article) |
5/80. 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.- - - - - - - - - - ranking = 1.0769002431461keywords = upper, chest (Clic here for more details about this article) |
6/80. 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.- - - - - - - - - - ranking = 0.5keywords = pain (Clic here for more details about this article) |
7/80. 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.- - - - - - - - - - ranking = 0.5971966166163keywords = upper (Clic here for more details about this article) |
8/80. Treatment of down syndrome-associated craniovertebral junction abnormalities.OBJECT: Operative intervention for craniovertebral junction (CVJ) instability in patients with down syndrome has become controversial, with reports of a low incidence of associated neurological dysfunction and high surgical morbidity rates. The authors analyzed their experience in light of these poor results and attempted to evaluate differences in management. methods: Medical and radiographic records of 36 consecutive patients with down syndrome and CVJ abnormalities were reviewed. The most common clinical complaints included neck pain (15 patients) and torticollis (12 patients). Cervicomedullary compression was associated with ataxia and progressive weakness. Hyperreflexia was documented in a majority of patients (24 cases), and 13 patients suffered from varying degrees of quadriparesis. Upper respiratory tract infection precipitated the presentation in five patients. Four patients suffered acute neurological insults after a minor fall and two after receiving a general anesthetic agent. Atlantoaxial instability was the most common radiographically observed abnormality (23 patients), with a rotary component present in 14 patients. Occipitoatlantal instability was also frequently observed (16 patients) and was coexistent with atlantoaxial dislocation in 15 patients. Twenty individuals had bone anomalies, the most frequent of which was os odontoideum (12 patients) followed by atlantal arch hypoplasia and bifid anterior or posterior arches (eight patients). Twenty-seven patients underwent surgical procedures without subsequent neurological deterioration, and a 96% fusion rate was observed. In five of 11 patients basilar invagination was irreducible and required transoral decompression. overall, 24 patients enjoyed good or excellent outcomes. CONCLUSIONS: The results of this series highlight the clinicopathological characteristics of CVJ instability in patients with down syndrome and suggest that satisfactory outcomes can be achieved with low surgical morbidity rates.- - - - - - - - - - ranking = 0.5keywords = pain (Clic here for more details about this article) |
9/80. 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.- - - - - - - - - - ranking = 1134.2354836222keywords = breathing (Clic here for more details about this article) |
10/80. 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.- - - - - - - - - - ranking = 2.5keywords = pain (Clic here for more details about this article) |
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