BACKGROUND: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.
METHODS: Here, we report 2 cases of Korean children with CHH-AD.
METHODS: In the first case, the patient had metaphyseal dysplasia without hypotrichosis, diagnosed by whole exome sequencing (WES), and exhibited only skeletal dysplasia and lacked extraskeletal manifestations, such as hair hypoplasia and immunodeficiency. In the second case, the patient had skeletal dysplasia, hair hypoplasia, and immunodeficiency, which were identified by WES.
METHODS: The second case is the first CHH reported in Korea. The patients in both cases received regular immune and lung function checkups.
RESULTS: Our cases suggest that children with extremely short stature from birth, with or without extraskeletal manifestations, should include CHH-AD as a differential diagnosis.
UNASSIGNED: Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.

Hirschsprung disease (HD) is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the hindgut. Here, we report a case of an eight-year-old male child who had abdominal distension with a history of repetitive gas passage and a complaint of stool passage. In February 2023, the patient was diagnosed with Hirshsprung disease, for which a left-side colostomy was done. In November 2023, he underwent Hirshsprung stage 2 repair. He was operated on the 17th of December 2023 under general anaesthesia colostomy mobilization. Physiotherapy commencement and evaluation were started on the 18th of December 2023. After the colostomy procedure, the incision weakened the abdominal and lower limb muscles, while bowel obstruction and discomfort further impeded the patient\'s ability to perform daily activities. Physical examination revealed increased work of breathing, reduced range of motion of the bilateral hip joint, reduced muscle strength of lower limb musculature, reduced abdominal muscle strength, difficulty in walking and waddling type of gait. Physiotherapy goals were set based on the problem list. The patient showed improvement in the two weeks of physiotherapy commencement, followed by improvement in functional ability. The comprehensive care provided during the rehabilitation phase aimed at addressing the specific needs arising from the surgical intervention, promoting optimal bowel function, improving ranges and strength and ensuring overall well-being.

Mowat-Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder associated with various defects of the zinc finger E-box binding homeobox 2 (ZEB2) gene. The ZEB2 gene is autosomal dominant and encodes six protein domains including the SMAD-binding protein, which functions as a transcriptional corepressor involved in the conversion of neuroepithelial cells in early brain development and as a mediator of trophoblast differentiation. This review summarizes reported ZEB2 gene variants, their types, and frequencies among the 10 exons of ZEB2. Additionally, we summarized their corresponding encoded protein defects including the most common variant, c.2083 C>T in exon 8, which directly impacts the homeodomain (HD) protein domain. This single defect was found in 11% of the 298 reported patients with MWS. This review demonstrates that exon 8 encodes at least three of the six protein domains and accounts for 66% (198/298) of the variants identified. More than 90% of the defects were due to nonsense or frameshift changes. We show examples of protein modeling changes that occurred as a result of ZEB2 gene defects. We also report a novel pathogenic variant in exon 8 in a 5-year-old female proband with MWS. This review further explores other genes predicted to be interacting with the ZEB2 gene and their predicted gene-gene molecular interactions with protein binding effects on embryonic multi-system development such as craniofacial, spine, brain, kidney, cardiovascular, and hematopoiesis.

BACKGROUND: Duplication of the bladder with duplication of the posterior urethra is a relatively rare congenital malformation. Cases of sagittal septum duplication of the bladder with duplication of the posterior urethra have rarely been reported. Furthermore, the combination thereof with congenital megacolon is rare.
METHODS: A 21-year-old male was admitted to our hospital because of frequent urination for two months. He presented to another hospital first with frequent urination and underwent computed tomography (CT) and testicular biopsy. Anti-inflammatory therapy was administered by the doctor to the patient. For further diagnosis and treatment, the patient went to the outpatient department in our hospital on June 6, 2022. After admission, the patient underwent ultrasound, CT, MRI, cystoscopy, and other related examinations and tests. The examination results suggested that the patient had duplication of the bladder with duplication of the posterior urethra. In addition, the patient\'s mother reported that he had suffered from long-term constipation with abdominal distension before the age of 5 years. At the time, he was admitted to the local hospital and was diagnosed with congenital megacolon based on the relevant examinations. After the patient was diagnosed with duplication of bladder and urethra, the doctor recommended surgical treatment to the patient. However, he considered that he only had frequent urination symptoms, and chose conservative treatment rather than to undergo surgical treatment. Thus, the doctor prescribed anti-inflammatory treatment. Four months later, the patient reported that frequent urination symptoms persisted, and was also considering fertility-related problems. The outpatient follow-up will be continued.
CONCLUSIONS: In this article, we summarize the imaging findings of duplication of the bladder with duplication of the posterior urethra and propose the advantages and disadvantages of each type of imaging examination. We also review the relevant literature on cases of bladders with duplication of the posterior urethra. The related differential diagnosis is summarized, and the significance of guiding clinical treatment and diagnosis is discussed.

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BACKGROUND: Hirschsprung\'s disease is a congenital disorder identified by the absence of ganglion cells at the Meissner\'s plexus of the submucosa and Auerbach\'s plexus of the muscularis. This disease can be found in approximately 1 in 5000 live births. It is a congenital disorder that is rarely diagnosed in adults, where 95% of cases are diagnosed in infants aged under 1 year old. Here we present a rare case of adult Hirschsprung\'s disease to enrich the body of knowledge  in diagnosing adult patients with chronic refractory constipation symptoms.
METHODS: An 18-year-old Indonesian woman came to the general surgery department of Unggul Karsa Medika Teaching Hospital with a defecating problem (constipation) since childhood. There was no history of her passage of meconium. A contrast enema study showed that the sigmoid colon was dilated and the rectum was narrowed, with rectosigmoid index < 1. With these findings, it was suspected that the patient may have ultra-short segment Hirschsprung\'s disease. The patient was then referred to the digestive surgery department of referral hospital for surgical treatment.
CONCLUSIONS: In adult patients presenting with history of constipation since childhood, it is necessary to consider the possibility of Hirschsprung\'s disease that was not diagnosed in early childhood. Hirschsprung\'s disease in adults is usually a short or ultra-short aganglionic segment because it shows relatively mild symptoms. Surgical removal of the aganglionic segment of the gut is the definitive treatment for Hirschsprung\'s disease.

BACKGROUND: Colon atresia is one of the rarest congenital anomalies of the gastrointestinal tract, with an incident range of between 1 in 10,000 and 66,000 live births. Type I colonic atresia affects only the mucosal layer of the intestine and spares the intestinal wall and mesentery. Hirschsprung Disease is a rare association of Colon atresia and is usually diagnosed as a complication of atresia treatment.
METHODS: This study reports a 14-h term white middle-eastern female infant with type I transverse colonic atresia complicated by the association of Hirschsprung disease and provides a brief literature review of the topic. She presented with poor feeding, weakness, and failure to pass meconium, and her abdominal X-ray showed complete distal bowel obstruction. The presence of Hirschsprung disease was realized after complications of atresia surgery. The infant underwent a total of three surgeries involving an end-to-end anastomosis of the atresia, colostomy formation following anastomosis leakage, and Hirschsprung surgery. The patient ultimately expired.
CONCLUSIONS: The association between colonic atresia and Hirschsprung disease poses a diagnostic and therapeutic challenge. Considering Hirschsprung disease as a possible association in colon atresia patients can facilitate proper decision-making in the course of treating colon atresia cases and achieving better outcomes.

Neonatal spontaneous colonic perforation in term neonates is a rare phenomenon, with caecal perforation being seldom reported. Therefore, this case report presents a rare case of spontaneous caecal perforation in a term neonate who presented with vomiting and abdominal distension on day two of life. On exploration, a single large full‑thickness cecum perforation was noted. Histopathologic samples were negative for necrotizing enterocolitis and Hirschsprung\'s disease. Clinical awareness of this rare entity could help in preventing delays in imaging and prompt surgical management.

BACKGROUND: Total colonic aganglionosis is an extremely rare variant of Hirschsprung\'s disease, which is predominant in males and can be seen in 1:50,000 live births. The presented case not only depicts a rare case, but also unusual clinical, laboratory, and instrumental data.
METHODS: A 2-day-old Caucasian female newborn was transferred to our hospital from maternity. The initial presentation was reverse peristalsis, abdominal distention, and inability to pass stool. Fever had started before the patient was transferred. Hirschsprung\'s disease was suspected, and tests such as contrast enema and rectal suction biopsy were done. Before enterostomy, the management of the disease included fluid resuscitation, colonic irrigation, antibiotic administration, enteral feeding, and supportive therapy. During ileostomy operation, no transition zone was visualized and full-thickness biopsy samples were retrieved from the rectum and descending colon. After surgical intervention, status significantly improved-defervescence and weight gain most importantly improved.
CONCLUSIONS: It is well known that diagnosis of total colonic aganglionosis may be delayed for months or even years since the transition zone may not be visible and rectal suction biopsy, unlike full-thickness biopsy, is not always reliable. It might be more prudent not to be derailed because of negative radiography and rectal suction biopsy. Also, doctors should be more suspicious of the disease if signs and symptoms are starting to be consistent with Hirschsprung-associated enterocolitis, despite biopsy and radiology results.

Intestinal atresia and hirschsprung disease are two common causes of bowel obstruction in neonates; simultaneous occurrence is rare. This report delineates a 36-week newborn with ileal atresia and total colonic hirschsprung who was referred to our unit due to failure of meconium passage during the first 48 h after birth.