exudates and Abnormalities--Multiple

We describe two Malay male term neonates with congenital limb reduction defects. The first neonate had hypodactyly of limbs associated with micrognathia, microstomia, glossopalatine ankylosis and congenital mitral stenosis. He developed gram-negative septicaemia and died on day 14 of life. The second neonate had tetraperomelia without any other associated congenital abnormality. He developed staphylococcal skin infection which was treated conservatively. Very few cases of congenital limb reduction defects have been reported in the Asian population and we are not aware of any other reports describing Malay infants with the congenital abnormalities described in this report.

Topics: Abnormalities, Multiple; Humans; Infant, Newborn; Limb Deformities, Congenital; Malaysia; Male; Mitral Valve Stenosis; Syndrome; Tongue

The objectives of the study were to compare the demographic characteristics, presenting complaints, timeliness of diagnosis, and treatments given to all patients diagnosed with obstructive hemivagina ipsilateral renal agenesis (OHVIRA) between the adolescent group (age 10-19) and the adult group (age 20 and above) and to propose a feasible screening test consisting of routine bedside ultrasound to detect renal anomalies in addition to pelvic ultrasound during the assessment of females with gynecologic complications in resource-limited settings.. We conducted a retrospective cohort analysis of all patients with OHVIRA at our institution, Sabah Women and Children's Hospital, Malaysia, between the 2013 and 2022. Data were collected by reviewing patients' medical notes.. There were a total of 18 patients diagnosed with OHVIRA from 2013 to 2022, aged 10-41 years old. Nine patients (50%) presented during adolescence. Most (88.9%) came with symptoms such as abdominal pain, urinary symptoms, abnormal uterine bleeding, foul-smelling vaginal discharge, and primary infertility, whereas only 2 patients (11.1%) were asymptomatic and diagnosed incidentally. Acute abdomen was more common in the adolescent group (P = .015). No significant difference was found on the side of the renal anomaly.. Presenting symptoms vary and are often mimicked other gynecologic or surgical conditions, making the diagnosis difficult and delayed. Some patients were incidentally diagnosed while being managed for other problems, and it was not uncommon to have unnecessary surgery before the correct diagnosis was made. We suggest that all female patients with abdominal and pelvic complaints should be screened for renal anomaly during pelvic scan to improve diagnostic rates.

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Female; Humans; Kidney; Malaysia; Retrospective Studies; Syndrome; Uterus; Vagina; Young Adult

Our objective was to determine the feasibility and early to medium-term outcome of stenting the patent ductus arteriosus at the time of radiofrequency valvotomy in the subgroup of patients with pulmonary atresia with intact ventricular septum and intermediate right ventricle.. Stenting of the patent ductus arteriosus and radiofrequency valvotomy have been proposed as the initial intervention for patients with intermediate right ventricle inasmuch as the sustainability for biventricular circulation or 1½-ventricle repair is unclear in the early period.. Between January 2001 and April 2009, of 143 patients with pulmonary atresia and intact ventricular septum, 37 who had bipartite right ventricle underwent radiofrequency valvotomy and stenting of the patent ductus arteriosus as the initial procedure. The mean tricuspid valve z-score was -3.8 ± 2.2 and the mean tricuspid valve/mitral valve ratio was 0.62 ± 0.16.. Median age was 10 days (3-65 days) and median weight 3.1 kg (2.4-4.9 kg). There was no procedural mortality. Acute stent thrombosis developed in 1 patient and necessitated emergency systemic-pulmonary shunt. There were 2 early in-hospital deaths owing to low cardiac output syndrome. One late death occurred owing to right ventricular failure after the operation. Survival after the initial procedure was 94% at 6 months and 91% at 5 years. At a median follow-up of 4 years (6 months to 8 years), 17 (48%) attained biventricular circulation with or without other interventions and 9 (26%) achieved 1½-ventricle repair. The freedom from reintervention was 80%, 68%, 58%, and 40% at 1, 2, 3, and 4 years, respectively.. Concomitant stenting of the patent ductus arteriosus at the time of radiofrequency valvotomy in patients with pulmonary atresia with intact ventricular septum and intermediate right ventricle is feasible and safe with encouraging medium-term outcome.

Topics: Abnormalities, Multiple; Cardiac Catheterization; Catheter Ablation; Ductus Arteriosus, Patent; Feasibility Studies; Heart Ventricles; Hospital Mortality; Humans; Infant; Infant, Newborn; Kaplan-Meier Estimate; Malaysia; Pulmonary Atresia; Radiography, Interventional; Recovery of Function; Stents; Survival Rate; Time Factors; Treatment Outcome; Ultrasonography; Ventricular Septum

Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects. Some cases also present with epilepsy, growth retardation with microcephaly and speech impairment. MWS was first described in 1998 by Mowat et al, and approximately 180 cases have been reported as of August 2008. The syndrome occurs as a result of heterozygous mutations or deletions in the zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). Most cases reported so far were sporadic occurrences; however, rare cases of sibling recurrence have been cited. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark, warranting ZEB2 mutational analysis even in the absence of Hirschsprung disease. We present the first two molecularly confirmed Malaysian MWS patients, one of whom has a novel mutation.

Topics: Abnormalities, Multiple; Child; Child, Preschool; Constipation; Epilepsy; Female; Gene Deletion; Hirschsprung Disease; Homeodomain Proteins; Humans; Malaysia; Repressor Proteins; Zinc Finger E-box Binding Homeobox 2

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Cornelia de Lange syndrome is caused by mutations in the NIPBL gene, the human homologue of the Drosophila Nipped-B gene. Here, we present the first clinical case report of a Malay child, a 9-year-old boy with the Cornelia de Lange syndrome. We also report the molecular investigation of the NIPBL gene in this patient.

Topics: Abnormalities, Multiple; Child; De Lange Syndrome; Humans; Malaysia; Male; Mutation; Polymorphism, Genetic

Topics: Abnormalities, Multiple; Child, Preschool; Humans; Infant; Infant, Newborn; Malaysia; Rubella