RUSSIA’S FIRST CLINICAL CASE OF A CHILD WITH MABRY’S SYNDROME (HYPERPHOSPHATASIA, MENTAL RETARDATION AND EPILEPSY) IN COMBINATION WITH HIRSCHSPRUNG’S DISEASE

2021 ◽  
Vol 100 (4) ◽  
pp. 148-154
Author(s):  
E.S. Pimenova ◽  
◽  
D.S. Tarasova ◽  
E.A. Klimova ◽  
D.A. Morozov ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung's Disease ◽  
Clinical Case ◽  
Hirschsprung’S Disease ◽  
Genetic Defects ◽  
Congenital Disease ◽  
Developmental Defects ◽  
Clinical Observations ◽  
Literary Sources ◽  
Severe Manifestation

The article presents a literature review of a rare congenital disease, hyperphosphatasia syndrome with mental retardation (Mabry's syndrome) in children. This syndrome is characterized by a triad of symptoms: hyperphosphatasia, epilepsy and mental retardation, often associated developmental defects. To date, 114 patients have been described. The review presents the available literary sources with clinical observations of patients since 1970, when the syndrome was first described by the pediatrician Ch. Mabry. The data on genetic defects leading to the disease are presented. The scheme of development of pyridoxine-sensitive epilepsy, the most severe manifestation of the syndrome, is described. The first clinical case of the patient with Mabry's syndrome in combination with Hirschsprung's disease in Russia is described.

scholarly journals Mowat-Wilson syndrome: A case report

2009 ◽  
Vol 137 (7-8) ◽  
pp. 426-429 ◽  
Author(s):  
Goran Cuturilo ◽  
Igor Stefanovic ◽  
Ida Jovanovic ◽  
Slobodanka Miletic-Grkovic ◽  
Ivana Novakovic
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Clinical Findings ◽  
Facial Dysmorphism ◽  
Severe Stenosis ◽  
Intrauterine Growth

Introduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.

scholarly journals OUR EXPERIENCE IN TREATMENT OF HIRSCHSPRUNG'S DISEASE IN A 18-YEAR-OLD PATIENT. CLINICAL CASE

2021 ◽  
pp. 47-52
Author(s):  
M. A. Agapov ◽  
D. R. Markaryan ◽  
V. V. Kakotkin ◽  
A. M. Lukyanov ◽  
V. A. Kubyshkin
Keyword(s):  
Surgical Treatment ◽  
Pediatric Surgery ◽  
Hirschsprung's Disease ◽  
Clinical Case ◽  
Hirschsprung’S Disease ◽  
Rare Condition ◽  
Improve Quality ◽  
Colon Wall ◽  
Proper Diagnosis

Introduction: Hirschsprung's disease (HD) is a relatively rare condition, in which the intermuscular (Auerbach) and submucosal (Meissner) plexus are absent in the colon wall at various lengths. In the literature, HD is described mainly in relation to the pediatric surgery area of interests because up to 90% of cases of this disease are detected before the age of 5 years 6. However, in some patients, the symptoms of the disease are not severe, so patients survive to adulthood without an established diagnosis.Clinical case: we demonstrate our experience of surgical treatment of Hirschsprung's disease in a 18-year-old patient.Conclusion: Although Hirschsprung's disease is in most cases a disease of childhood, it is necessary to keep in mind its typical symptoms when an adult patient complains of constipation. Proper diagnosis and correctly selected surgical treatment can not only eliminate symptoms and improve quality of life, but also reduce the likelihood of serious complications.

Diagnosis of Hirschsprung's Disease: Accuracy of Barium Enema Findings

1997 ◽  
Vol 36 (4) ◽  
pp. 631
Author(s):  
Sue Yun Yu ◽  
Gye Yeon Lim ◽  
Ji Yeong Yun ◽  
Seong Tae Hahn ◽  
Hak Hee Kim ◽  
...  
Keyword(s):  
Barium Enema ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease

Calretinin Expression in Hirschsprung’s Disease – A Potential Marker of Ganglion Cells

2017 ◽  
Vol 11 (3) ◽  
pp. 181-186
Author(s):  
Mishal Sikandar ◽  
Abdul Hannan Nagi ◽  
Komal Sikandar ◽  
Nadia Naseem ◽  
Ihtisham Qureshi
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Potential Marker

scholarly journals Outcomes in Hirschsprung’s disease with coexisting learning disability

2021 ◽  
Author(s):  
Joseph R. Davidson ◽  
Kristiina Kyrklund ◽  
Simon Eaton ◽  
Mikko P. Pakarinen ◽  
David Thompson ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Learning Disability ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Core Outcome Set ◽  
Functional Results ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Related Quality

AbstractThis study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprung’s disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. This was a cross-sectional study from a tertiary pediatric surgery center. Patients treated between 1977 and 2013 were prospectively contacted to complete an outcomes survey. Children under 12 and older patients with LD were assisted to complete these by a proxy. Bowel and urologic function were assessed (Rintala’s BFS and modified DanPSS) along with HRQoL (PedsQL/GIQLI/SF-36). Thirty-two patients with LD were compared to 186 patients with normal cognition. Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44–60%), and urinary incontinence in 46%. Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults. Subgroup analysis of patients with Down syndrome suggested similar functional results but better QoL. Multivariate analysis demonstrated a dramatically higher incidence of poor continence outcomes in patients with LD (adjusted OR 9.6 [4.0–23]).Conclusions: We provide LD-specific outcomes showing inferior function but similar HRQoL to other patients with HSCR, this is much needed in the counselling of families of these children. What is Known:• Hirschsprung’s disease is commonly associated with syndromes or other anomalies with resultant cognitive impairments.• The outcomes for these patients specifically have been poorly described in the literature. What is New:• Objective functional and quality of life surveys demonstrate significant differences from patients without cognitive impairment.• Patients with learning disability Patients with associated LD were almost ten times more likely to have an associated poor functional outcome, with very little impact on proxy-reported quality of life.

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