Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes Δ(1)-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.braindev.2016.01.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Landscape of Cyclic Vomiting Syndrome: From Bedside to Bench, Past to Present.
Neurogastroenterol Motil
January 2025
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Investigations into mechanisms of cyclic(al) vomiting syndrome (CVS) began at the bedside more than a century ago. The modern era started with the formation of the Cyclic Vomiting Syndrome Association in 1993 that helped initiate robust efforts in education, advocacy, family physician conferences, scientific symposia, dedicated clinical programs, therapeutic guidelines, and research. Even today, bedside clues continue to emerge with the recent description of cannabinoid hyperemesis syndrome (CHS) and subsequent evidence of a perturbed endocannabinoid system.
View Article and Find Full Text PDFCannabinoid hyperemesis syndrome in pregnancy: a case series and review.
Obstet Med
December 2024
Specialist Perinatal Mental Health Service, University Maternity Hospital Limerick, Limerick, Ireland.
Background: Cannabinoid hyperemesis syndrome (CHS) is a syndrome of cyclic nausea and vomiting in the setting of chronic cannabis use. To date, only 11 cases of CHS in pregnancy have been reported.
Case Presentation: We describe two cases of uncontrolled vomiting in pregnancy due to CHS.
Diagnostic characteristics of pediatric cyclic vomiting syndrome.
J Pediatr Gastroenterol Nutr
December 2024
Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Objectives: Cyclic vomiting syndrome (CVS) remains a diagnostic challenge due to its nonspecific presentation despite consensus-based diagnostic criteria. There is a need for improved, evidence-based diagnostic criteria. We hypothesized that symptoms differ quantitatively between children with CVS versus other vomiting conditions and that current diagnostic criteria are not sufficiently sensitive for diagnosing CVS.
View Article and Find Full Text PDFFuture Applications of Central Neuromodulation and Neurophysiological Testing in Cyclic Vomiting Syndrome.
Neurogastroenterol Motil
December 2024
Center for Neurointestinal Health, Massachusetts General Hospital, Boston, Massachusetts, USA.
Background: Cyclic vomiting syndrome (CVS) is defined by its episodic patterning. Furthermore, CVS is associated with other episodic disorders such as migraine and epilepsy. Indeed, many of the medications that are known to be useful for prophylaxis and abortive therapy in CVS are also effective in preventing and aborting migraines and seizures.
View Article and Find Full Text PDFSymptom Patterns in Adults With Cyclic Vomiting Syndrome: A 6-Month Prospective Observational Study.
Neurogastroenterol Motil
December 2024
Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Article Synopsis
- A study was conducted to understand the symptom patterns and natural history of cyclic vomiting syndrome (CVS) in adults over a 6-month period using daily electronic diaries.
- The research involved 93 enrolled patients, with 88 providing data; a significant number experienced CVS episodes, with a median of 0.6 episodes per month, lasting around 3 days on average.
- The findings indicate variability in episode patterns and emphasize the need for more precise definitions and characterizations of CVS episodes for better understanding and management of the condition.
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!