Cardiomyopathy, Hypertrophic ; complications ; Down Syndrome ; complications ; Humans ; Infant, Newborn ; Male

Moyamoya disease is a cerebrovascular disorder of unknown cause, characterized by slowly progressive bilateral stenosis or occlusion of the internal carotid arteries and produces collateral vessels. Moyamoya syndrome has rarely been reported in association with Graves' disease, especially in children. Several reports suggest that a cerebral infarction might have occurred in patients with clinical and laboratory evidence of hyperthyroid function. We report a case of Moyamoya disease in a girl with Down syndrome and thyrotoxicosis, and we review the relevant literature. To our best knowledge, this is the first report of Moyamoya disease associated with thyrotoxicosis in a young person in Korea.
Down Syndrome/complications ; Female ; Humans ; Korea ; Moyamoya Disease/*complications/*diagnosis ; Thyrotoxicosis/*complications ; Young Adult

Chronic Disease ; Down Syndrome ; complications ; Heart Defects, Congenital ; complications ; Humans ; Infant, Newborn ; Leukemia ; congenital ; Male

Down Syndrome ; complications ; Humans ; Infant, Newborn ; Male ; Pleural Effusion ; complications ; congenital

Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.
Airway Obstruction ; Body Weight ; Down Syndrome ; complications ; diagnosis ; Esophageal Achalasia ; complications ; diagnosis ; Female ; Fluoroscopy ; Gastroesophageal Reflux ; complications ; diagnosis ; Humans ; Infant ; Karyotyping

Autistic Disorder ; complications ; psychology ; Child ; Child Development ; Communication ; Down Syndrome ; complications ; physiopathology ; psychology ; Follow-Up Studies ; Humans ; Interpersonal Relations ; Male ; Play and Playthings ; Singapore ; Social Behavior ; Stress, Psychological ; psychology

OBJECTIVETo summarize the clinical characteristics, laboratory findings and prognosis of patients with Down syndrome-related acute leukemia (DS-AL).

METHODSThe clinical data, laboratory findings, chemotherapy and prognosis of 21 children with DS-AL were analyzed.

RESULTSMost of the children had disease onset of leukemia at 1 to 5 years of age (85.7%), and acute myeloid leukemia accounted for 57.1% of these cases; 61.9% of the patients had increased lactate dehydrogenase level by 2 folds or more. Of the 13 cases undergoing echocardiaography, 10 (67.9%) showed abnormal findings, and complex congenital heart disease was common (38.5%). Six of the children received chemotherapy and complete remission was achieved in 4 cases; 2 patients died of infection, and the treatment-related mortality was 33.3%. The 2 patients receiving reduced intensive chemotherapy have so far had event-free survival for 21 and 43 months.

CONCLUSIONAcute myeloid leukemia is the most common subtype of DS-AL. Patients with DS-AL are sensitive to chemotherapy and the prognosis was favorable with reduced intensive chemotherapy.

Antineoplastic Combined Chemotherapy Protocols ; Child, Preschool ; Disease-Free Survival ; Down Syndrome ; complications ; Humans ; Infant ; Leukemia, Myeloid, Acute ; complications ; drug therapy ; Prognosis ; Remission Induction

OBJECTIVETo investigate the association between trisomy 21 abnormalities and the clinical and cytogenetic features of hematologic malignancies.

METHODSChromosome preparations were made on bone marrow cells by using direct method and/or unstimulated short-term cultures. Karyotypes were analyzed by R-banding.

RESULTSThirteen patients (1.5%) with acute myeloid leukemia (AML) including 6 cases of M5b, 8 (2.2%) with acute lymphoblastic leukemia (ALL) and 4 cases with other hematologic malignancies had acquired trisomy 21, and in 13 patients it occurred as the sole cytogenetic abnormality. The remaining had combination with other abnormalities. The median survival for the 19 patients with trisomy 21 was 9 months.

CONCLUSIONM5b was the major type in AML with sole acquired trisomy 21.Trisomy 21 as the sole abnormality appeared to have a poor prognosis.

Adolescent ; Adult ; Aged ; Down Syndrome ; complications ; Female ; Follow-Up Studies ; Hematologic Neoplasms ; complications ; genetics ; pathology ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; complications ; genetics ; pathology ; Male ; Middle Aged ; Phenotype ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; genetics ; pathology ; Survival Rate

OBJECTIVE: To evaluate the impact of Down syndrome (DS) on surgical management in patients with congenital heart defects (CHD). METHODS: We retrospectively analyzed the clinical data from 35 children with DS and CHD, who underwent cardiac surgery between 2004 and 2009. The data on surgical mortality, complications and follow-up results are emphasized. RESULTS: All of the patients underwent primary repair. One child (2.9%) with DS and complete atrioventricular septal defect (CAVSD) died early postoperatively because of pulmonary hypertension. Two patients (5.7%) had low cardiac output syndrome, and 15 (42.9%) suffered pulmonary complications. III degree atrioventricular block (AVB) occurred in 4 patients (11.5%). Thirty children who were followed up 10 months to 6 years [(3.8±1.1) years] are in NYHA class I or II. There were no reoperations or later death. CONCLUSION CHD in DS children can be repaired with a low risk of mortality, although a high incidence of severe infections and III degree AVB can result in a complicated postoperative course. The results of mid-term follow up are satisfactory.
Child ; Child, Preschool ; Down Syndrome ; complications ; Female ; Heart Defects, Congenital ; complications ; mortality ; surgery ; Heart Septal Defects, Ventricular ; complications ; mortality ; surgery ; Humans ; Infant ; Male ; Postoperative Complications ; etiology ; Retrospective Studies ; Survival Analysis ; Treatment Outcome

We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.
Aneuploidy ; Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Down Syndrome/complications/*genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; *Mosaicism ; Trisomy ; Turner Syndrome/complications/*genetics