UNASSIGNED: The underlying molecular defects of congenital hydrocephalus are heterogeneous and many isolated forms of hydrocephalus remain unsolved at the molecular level. Congenital hydrocephalus in males associated with agenesis of the corpus callosum is a notable characteristic of L1CAM gene which is by far the most common genetic etiology of congenital hydrocephalus.
UNASSIGNED: Sequencing of the L1CAM gene on 25 male patients/fetuses who had been presented with hydrocephalus revealed 6 patients and two fetuses with different hemizygous pathogenic variants. Our study identified 4 novel variants and 4 previously reported. The detection rate was 32%, and all the variants were shown to be maternally inherited. Nonsense variants were detected in 3 patients, while missense variants were detected in 2 patients. Frameshift, silent, and splicing variant, each was detected in 1 patient. The clinical manifestations of the patients are in line with those frequently observed including communicating hydrocephalus and agenesis of the corpus callosum. Moreover, rippled ventricles with subdural collection and asymmetry of ventricles after shunt operation were seen in 1 patient and 2 patients, respectively. In addition, abnormal basal ganglia were found in 4 patients which seems to be an additional distinct new finding. We also describe a patient with novel nonsense variant with the rare association of Hirschsprung\'s disease. This patient displayed additionally multiple porencephalic cysts and encephalomalacia secondary to hemorrhage due to repeated infections after shunt operation. The patients with the missense variants showed long survival, while those with truncating variants showed poor prognosis.
UNASSIGNED: This report adds knowledge of novel pathogenic variants to the L1CAM variant database. Furthermore, we evaluated the clinical and imaging data of these patients.

Hirschsprung\'s disease is a rare disease characterized by the complete absence of ganglionic cells in the colon, thereby causing loss of peristalsis movement of the bowel. Most cases are diagnosed before the age of one. Here, we present a case of a newborn baby boy who was not feeding well and then developed a distended abdomen and began bilious vomiting. Blood mucoid stools were also observed. The diagnosis of Hirschsprung\'s disease was confirmed through a full-thickness rectal biopsy, and the Duhamel surgical procedure was performed as a course of treatment all within the first few days of birth. No complications were reported, and the baby was safely discharged after seven days. This case demonstrates the importance of timely treatment after prompt diagnosis due to the early recognition of the severe symptoms. Even though this disease is rare, pediatricians should be trained to recognize and treat the child to prevent further detrimental outcomes.

BACKGROUND: Little is known about psychosocial and behavioral factors that impact the quality of life of patient\'s with anorectal malformations (ARM) and Hirschsprung disease (HSCR). We aimed to highlight the psychosocial, emotional, and behavioral themes that affect these patients.
METHODS: A qualitative literature review of articles published between 1980 and 2019 was performed. Articles that reported quality of life (QoL) measures not directly related to bowel function and incorporated data on patients aged 0-21 years old were included. Data were separated based on distinct developmental time points.
RESULTS: In the neonatal period, parents relayed uncertainty about the future and feeling overwhelmed by lack of social support. Difficulties with anxiety, peer rejection, and behavioral problems were noted in primary grades, while adolescents experienced low self-confidence, poor body image, and depression. Young adults expressed hesitancy to engage in romantic relationships or sexual activity. Lack of long-term follow-up, an incomplete transition to adult healthcare, and lack of psychology services leave young adults without guidance to manage a chronic condition.
CONCLUSIONS: Multiple psychosocial stressors are present in the lives of ARM and HSCR patients. Provision of developmentally matched medical, psychological, and community-based supports for ARM and HSCR patients and their families can lead to improved QoL.

Our objective is to describe the prevalence of patients with internal anal sphincter achalasia (IASA) without Hirschsprung disease (HD) among children undergoing anorectal manometry (ARM) and their clinical characteristics.
We performed a retrospective review of high-resolution ARM studies performed at our institution and identified patients with an absent rectoanal inhibitory reflex (RAIR). Clinical presentation, medical history, treatment outcomes, and results of ARM and other diagnostic tests were collected. We compared data between IASA patients, HD patients, and a matched control group of patients with functional constipation (FC).
We reviewed 1,072 ARMs and identified 109 patients with an absent RAIR, of whom 28 were diagnosed with IASA. Compared to patients with FC, patients with IASA had an earlier onset of symptoms and were more likely to have abnormal contrast enema studies. Compared to patients with HD, patients with IASA were more likely to have had a normal timing of meconium passage, a later onset of symptoms, and were diagnosed at an older age. At the latest follow-up, the majority of patients diagnosed with IASA (54%) were only using oral laxatives. Over half of patients with IASA had been treated with anal sphincter botulinum toxin injection, and 55% reported a positive response.
Patients diagnosed with IASA may represent a more severe patient population compared to patients with FC, but have a later onset of symptoms compared to patients with HD. They may require different treatments for their constipation and deserve further study.

OBJECTIVE: The purpose of this study was to assess bowel function and quality of life (QoL) in patients with Hirschsprung\'s disease (HD) and identify patients who have \'failed\' treatment.
METHODS: A review of a single-center HD cohort treated with pull-through surgery from 2004 to 2017 was completed. Bowel function of patients five years and above and QoL of all patients were assessed using validated questionnaires. Patients who \'failed\' treatment were defined as above five years with one or more of: a) long-term stoma, b) needing an antegrade continence enema or transanal irrigation, c) severe soiling, or d) severe constipation. Statistical analysis was performed with P < 0.05 deemed significant. Data are given as mean [range].
RESULTS: Seventy-one patients presented with HD within the study period. Mean follow-up was 5.4 years [0.7-13.3]. Of 38 eligible patients, bowel function was assessed in 24 patients (nine had a stoma, five lost to follow-up). The mean incontinence score was 17 [0-28)], and the mean constipation score was 17 [5-25]. Incontinence and constipation scores were worse than healthy controls (P < 0.001 and P = 0.001, respectively) and did not improve with age. Fifty-six patients had QoL assessed with no difference between our cohort (81 [25-100]) and healthy controls (81 [unknown]); (P = 0.85). Thirty-three patients were assessed for \'failure\' (bowel function score n = 24; stoma n = 9). Thirty of 33 (91%) children older than five years can be considered to have \'failed\' treatment.
CONCLUSIONS: Patients have worse bowel function than healthy children, which does not improve with age. QoL is comparable to healthy controls. A significant proportion of patients have poor outcomes and have \'failed\' treatment.
METHODS: Level III.

UNASSIGNED: Hirschsprung\'s disease (HD) is uncommon in adulthood. In this study, we describe the management of two cases of adult Hirschsprung\'s disease treated with transanal colonic pull-through procedure followed by a delayed coloanal anastomosis.
UNASSIGNED: This was a retrospective (December 2016 to Jun 2019) study included two cases of adult HD with confirmed Hirschsprung disease who underwent surgery at Zinder National hospital, Niger. The registration number is researchregistry 5174.
UNASSIGNED: These were two patients aged 21 years (male) and 22 years (female) admitted to the emergency department with an acute bowel obstruction. The history finds a delayed passage of meconium at birth with a history of long-standing recurrent constipation since early childhood for the 2 patients. A lateral colostomy was performed urgently in both patients and the barium enema revealed a disparity of the sigmoid colon with corn shaped transition zone. Histologic examination of the biopsy specimen confirmed the diagnosis of HD. Surgery was done according to transanal endorectal pull-through procedure followed by delayed coloanal anastomosis. Patients were regularly followed over a period of 16 months. Constipation was gone, no continence problem was reported and quality of life was rated satisfactory.
UNASSIGNED: The discovery of Hirschsprung\'s disease is rare in adulthood. Transanal endorectal pull-through procedure followed by delayed coloanal anastomosis with conventional surgery is a suitable option for the treatment of HD and gives a good result.

Background and Aim  Congenital segmental intestinal dilatation (CSID) is a neonatal condition with unclear etiology and pathogenesis. Typically, the newborn with CSID presents with a limited (circumscribed) bowel dilatation, an abrupt transition between normal and dilated segments, neither intrinsic nor extrinsic perilesional obstruction, and no aganglionosis or neuronal intestinal dysplasia. We aimed to review this disease and the long-term follow-up at the Children\'s Hospital of the Medical University of Innsbruck, Tyrol, Austria. Study Design  Retrospective 25-year review of medical charts, electronic files, and histopathology of neonates with CSID. Results  We identified four infants (three girls and one boy) with CSID. The affected areas included duodenum, ileum, ascending colon, and sigmoid colon. Noteworthy, all patients presented with a cardiovascular defect, of which two required multiple cardiac surgical interventions. Three out of the four patients recovered completely. To date, the three infants are alive. Conclusion  This is the first report of patients with CSID and cardiovascular defects. The clinical and surgical intervention for CSID also requires a thorough cardiologic evaluation in these patients. CSID remains an enigmatic entity pointing to the need for joint forces in identifying common loci for genetic investigations.

UNASSIGNED: Children with chronic constipation dating to infancy frequently undergo rectal biopsy in order to rule out Hirschsprung\'s disease (HD) which is a common cause of this sort of presentation. Few publications have however focused on the documentation of the proportion of such patients who truly had histopathological findings confirming the disease. In this preliminary work, we aim to present the histopathological findings of children who had rectal biopsies in our centre from 2009 to 2014.
UNASSIGNED: A retrospective study was undertaken to review the histopathology reports of all rectal biopsies submitted to the Department of Pathology of the Komfo Anokye Teaching Hospital, Kumasi, from 2009 to 2014 on account of refractory constipation and suspected HD. Patient\'s biodata, clinical signs and symptoms were extracted from the request form.
UNASSIGNED: Eighty-eight cases were seen during the study period with male to female ratio 2.8:1 and age range 6 months to 10 years. The modal age range is 24-36 months. Seventy-six of the specimens were adequate for histopathological assessment with 64 cases confirmed as HD while 12 cases were normal. Out of the confirmed cases, 3 cases showed absence of ganglion cells but no hypertrophy of nerve fibres.
UNASSIGNED: This preliminary work reveals that HD is rarely confirmed by biopsy in early infancy in our setting due to late presentation although the epidemiology of the disease is similar to that reported elsewhere.

UNASSIGNED: The aim of this study is to highlight the rarity of this disorder and its associated anomalies and our objective was to review our experience in the management of colonic atresia (CA) with respect to staged surgery versus one-step procedure for a better outcome of the disease.
UNASSIGNED: A randomized, controlled, single-center study conducted over a period of 4 years from October 2013 to 2017.
UNASSIGNED: Nine cases were operated for CA of which three underwent primary anastomosis and six underwent initial colostomy followed by definitive surgery. Age, sex, body weight, clinical presentation, type of atresia, site, time interval of operation, associated anomalies, initial procedure, postoperative complications, final procedure, biopsy, hospital stay, and outcome were noted.
UNASSIGNED: Microsoft Excel was used for statistical analysis.
UNASSIGNED: Out of 9 patients, 6 were males and 3 were females, 7 patients survived and 2 patients died (mortality 22.2%), of which one patient with primary anastomosis had leak and sepsis and one patient with primary anastomosis had associated Hirschsprung\'s disease (HD). Mean time gap for operation was 12.8 h and mean hospital stay was 3.5 days for initial colostomy and 21 days for primary anastomosis. Wound dehiscence occurred in 4 patients. Malrotation was found in 3 patients, HD in 2 patients, cardiac anomaly in 2, Meckel\'s diverticulum in 1, and cleft lip in 1 patient. Type IIIa atresia was found in in 6 patients, Type I in 2, and Type II in 1 patient. The most common site was transverse colon (n = 5).
UNASSIGNED: Diagnosis and management of CA is a challenge. Early presentation and diagnosis should be prompt. Staged procedure with initial colostomy followed by definitive procedure is the preferred choice. Associated anomaly HD must be ruled out.

OBJECTIVE: The purpose of this study was to review the management of obstructive symptoms and enterocolitis (HAEC) following pull-through for Hirschsprung\'s disease.
METHODS: A systematic review and meta-analysis (1992-2017) was performed. Included studies were: randomized controlled trials (RCT), retrospective/prospective case-control (C-C), case-series (C-S). Random-effect model was used to produce risk ratio (RR) [95% CI]. P < 0.05 was considered significant.
RESULTS: Twenty-nine studies were identified. Routine postoperative dilatations (5 C-S, 2 C-C; 405 patients): no effect on stricture incidence (RR 0.3 [0.02-5.7]; p = 0.4). Routine postoperative rectal irrigations (2 C-C; 172 patients): reduced HAEC incidence (RR 0.2 [0.1-0.5]; p = 0.001). Posterior myotomy/myectomy (4 C-S; 53 patients): resolved obstructive symptoms in 79% [60.6-93.5] and HAEC in 80% [64.1-92.1]. Botulinum toxin injection (9 C-S; 166 patients): short-term response in 77.3% [68.2-85.2], long-term response in 43.0% [26.9-59.9]. Topical nitric oxide (3 C-S; 13 patients): improvement in 100% of patients. Probiotic prophylaxis (3 RCT; 160 patients): no reduction in HAEC (RR 0.6 [0.2-1.7]; p = 0.3). Anti-inflammatory drugs (1 C-S, sodium cromoglycate; 8 patients): improvement of HAEC in 75% of patients.
CONCLUSIONS: Several strategies with variable results are available in patients with obstructive symptoms and HAEC. Routine postoperative dilatations and prophylactic probiotics have no role in reducing the incidence of postoperative obstructive symptoms and HAEC.
METHODS: Systematic review and meta-analysis.
METHODS: Level II.