DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect. Here, we report a case of an infant with DGS with a sacral myelomeningocele inherited from the mother. The infant developed epilepsy without hypocalcemia or cortical dysgenesis which is considered related to the sacral myelomeningocele.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890554 | PMC |
| http://dx.doi.org/10.4103/jpn.JPN_92_17 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Adult anterior sacral myelomeningocele associated with a didelphys uterus: A rare case report presentation.
Int J Gynaecol Obstet
December 2024
Al-Hadi Laboratory and Medical Center, Beirut, Lebanon.
Anterior spinal myelomeningocele (ASM) is a rare congenital anomaly which may remain asymptomatic until adulthood. This anomaly may reveal in different presentations causing in its turn a diagnostic dilemma. Definitive diagnosis is usually made through magnetic resonance imaging (MRI) and when an association with other abnormalities can be found, especially ones including the genitourinary system.
View Article and Find Full Text PDFLateral Sacral Artery Perforator Flap as a New Option in Myelomeningocele Reconstruction.
Ann Plast Surg
December 2024
Department of Neurosurgery, University of Medical Science, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.
Article Synopsis
- The study investigates the use of lateral sacral artery perforator (LSAP) flaps for reconstructing myelomeningocele, highlighting their potential as a new surgical option.
- Eleven patients underwent the procedure, with a total of 22 LSAP flaps used; results showed an average operation time of 57 minutes and minimal complications.
- The authors suggest LSAP flaps could be beneficial for lumbar region defects and recommend them as a viable alternative for reconstructing pressure sores in the kyphotic region.
Bridging the spinal dysraphism spectrum between terminal myelocystocele and spinal cord lipoma: a report of two cases of true terminal lipomyelocystocele with holo-cord syrinx.
Childs Nerv Syst
December 2024
Department of Neurosurgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India.
Terminal myelocystocele (TMC) is a rare form of spinal dysraphism which arises due to aberration in the secondary neurulation process involving the caudal cell mass. Terminal myelocystocele has been defined by Pang et al. based on essential and non-essential features.
View Article and Find Full Text PDFFetal Urinary Ascites From Bladder Rupture: A Rare Complication of Posterior Urethral Valve.
Cureus
August 2024
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Prenatal ultrasonography (USG) plays a crucial role in diagnosing fetal urinary tract anomalies and distinguishing between lower urinary tract obstructive (LUTO) and neurological causes (seen with spinal dysraphism, myelomeningocele, meningocele, and sacral agenesis) of urinary bladder distension. Fetal urinary ascites, a rare but severe complication, can result from bladder rupture associated with obstructive uropathy such as posterior urethral valves (PUV). This case study presents a rare instance of fetal urinary ascites due to PUV detected during prenatal ultrasonography at 20 weeks of gestation (WOG).
View Article and Find Full Text PDFAnalysis of a newly developed multidisciplinary program in the Middle East informed by the recently revised spina bifida guidelines.
J Pediatr Rehabil Med
August 2024
Developmental-Behavioral Pediatrics, Texas Children's Hospital/Baylor College of Medicine, Houston, TX, USA.
Purpose: This paper describes the development and characteristics of a multi-disciplinary spina bifida clinic in Qatar considering the recently revised and globally available Guidelines for the Care of People with Spina Bifida (GCPSB).
Methods: A retrospective chart review was performed on individuals in Sidra's multidisciplinary spina bifida clinic database from January 2019 to June 2020. Their electronic health records were reviewed for demographics, as well as neurosurgical, urologic, rehabilitation, and orthopedic interventions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!