Malnutrition and Developmental Delay Presenting as Complications of Late Onset Hirschprung’s disease : A Case Report

Background: Hirschsprung ’ s Disease is a congenital disorder characterized by the absence of ganglionic cells in the colon, causing loss of peristaltic movement in the bowel. Most cases are diagnosed before the age of one and marked by the delayed passage of meconium, vomiting, and distended abdomen. Here, we present a case of a 2-year-old boy with an atypical presentation of malnutrition and developmental delay as a complication of Hirschsprung ’ s Disease. . Case Presentation: A 2-year-old boy who presented with abdominal distention and chronic constipation was referred to our hospital. Past personal history revealed that he frequently suffered from the symptoms but was previously diagnosed with regular constipation and only consumed symptomatic medication. On admission, his vital signs were all normal, but his appearance was pale and weak. Growth and developmental screening showed poor growth status and developmental delay in all four domains. From the physical examination, gross abdominal distention was found and the rectal examination demonstrated a tight anal sphincter, empty rectal vault, and a green-colored stool with no forceful expulsion. Radiologic and histopathological findings suggested Hirschsprung ’ s disease. Conclusion: Chronic abdominal distention followed by malnutrition and developmental delay can present as a complication of hirschsprung ’ s disease in older children. Due to these subtle signs and symptoms, a thorough examination and proper diagnostic algorithm are essential to assess patients ’ clinical condition without missing the possibility of rare congenital disease.


Introduction
Hirschsprung's disease is a congenital disorder with an incidence of 1 to 2 cases per 10.000 live births. It typically presents in the newborn baby, but in some cases, it is found in older children and adults with atypical presentation. Many factors contribute to the delay of the diagnosis, but the diagnosis of Hirschsprung's Disease in older children and adults is mainly caused by a lack of awareness of the symptoms and difficulties in accessing quality care. A high index of suspicion is necessary to investigate the problems and prevent morbidity and mortality.
In this study, we report a case of a 2-year-old boy with abdominal distention and was found to have severe malnutrition and developmental delay due to his condition. 32 history revealed that at the age of 3 months, he started suffering from those symptoms and only consumed symptomatic medication regularly from the local public health service. He was diagnosed with regular constipation. As time passed by, the symptoms are getting worse, and he was referred to our hospital. On admission, his vital signs were normal, but his appearance was pale and weak. An anthropometric examination revealed that he was severely stunted (HAZ = -4,70 SD), severely underweight (WAZ = -4,78 SD), severely wasted (WHZ = -4 SD), and underwent microcephaly. The Denver II Developmental Screening Test (DDST) was also done to assess his cognitive and behavioral problems ( Figure  1). The result of DDST showed there were delayed in all domains, where the gross motor domain revealed the worst.

Case presentation
The abdominal examination showed a gross abdominal distention, increased bowel sound in auscultation, and hypertimpanic in percussion ( Figure  2). No organomegaly or palpable masses on deep palpation. Rectal examination demonstrated a tight anal sphincter and an empty rectal vault. On finger examination, there was a green-colored stool with no forceful expulsion. His initial laboratory results showed a low hemoglobin of 9,8 gr/dl and a slightly low hematocrite of 30,5%. Plain abdominal radiographs showed dilated small intestine and colon filled with massive fecal material ( Figure 3A). A colon in loop examination showed a short aganglionic rectal segment of 1,55 cm was revealed, indicating congenital megacolon.
Surgical treatment consisted of colostomy and decompression of the sigmoid colon. Patient also received the nutritional intervention of F75 therapeutic milk, natrium, zinc, and calcium supplementation for his malnutrition problem. Moreover, iron supplementation and 150cc of packed red cell transfusion was given to treat his anemia. The postsurgical evaluation was favorable and the patient's clinical condition was improved. The patient was finally discharged from the hospital on the 9th day. The patient was scheduled to do a routine follow-up every month to evaluate his symptom and nutritional status.

Discussion
This study reports a late-onset of Hirschsprung's Disease with malnutrition and developmental delay as its complication. Hirschsprung's disease is commonly considered a newborn disease, but certain circumstances in developing countries may lead to a late diagnosis or inadequate medical treatment 1 . Ignorance of the patient, lack of knowledge, and habitual long-term of chronic constipation usually become the main reason for the delayed diagnosis 2 . Delayed passage of meconium, vomiting, and distended abdomen is most commonly found in infants and been associated with higher mortality rate 3 . Early diagnosis is crucial in preventing later complications. Late-onset hirschsprung's disease (in children of 2 years age or over) usually comes with a different presentation than in the newborn period 2,4 . like Hirschsprung-associated enterocolitis, chronic constipation, failure to thrive, or more 5 . However, short and long-term complications remain a considerably serious problem. In this case, the patient came with abdominal distention and chronic constipation followed by malnutrition and developmental delay. In this study, the patient suffered from chronic obstruction, sometimes he was unable to defecate at all so the patient's mother had to place a rubber tube to help him defecate, but some other times the stool was able to pass a bit. The patient's poor feeding is responsible for his malnutrition and developmental delay. Malnutrition can be a serious problem. Chronic obstruction affects the patient's digestion process and nutrient absorption, including iron and other materials needed for blood formation. As a result, older children with hirschsprung's disease often experience a nutritional deficiency, growth retardation, and anemia 6 . In this study, the patient had a severe anthropometric profile, where all of his Z-Scores were -4 SD or below (normal range: +2 until -2 SD).
Khandelwal et.al revealed that a Z-Score of less than three SD and the presence of anemia were significantly associated with developmental delay 7 . In the same way, other previous studies revealed that under-nutritional status, that is being underweight, stunting, and wasting, among under-five children was significantly associated with developmental delay 8 . These studies are in line with our findings that the patient underwent a delay in four major domains of development: gross-motor, fine-motor, language, and personal-social domain. Malnutrition is a potential risk factor for neurodevelopment. Brain development is sensitive to nutritional deficits. Different nutrients preferentially affect different brain functions 9 .
These problems can be the presenting symptom in some hirschsprung's disease patients, and may not be immediately recognized due to the rarity of the disease. Delay in diagnosis remains a challenge in developing countries because it may potentially affect clinical outcomes. Late referral and inadequate access to specialized health facilities are the main reasons for late diagnosis. Moreover, only 90% of all hirschsprung's diseases present typical clinical features during the newborn period 10 Hence, a thorough physical examination and comprehensive look at the patient's past medical illness should be conducted to open up the possibility of hirschsprung's disease as soon as possible.
Moreover, malnutrition and anemia were known as potential risk factors for anastomotic leakage after surgery. A study conducted by Ouladsaiad revealed that operative strategies in older children were more difficult, especially in malnutrition conditions. Fortunately, we succeeded to perform the colostomy safely with no difficulties 10 . However, the patient was advised to do a routine follow-up to make sure he has no significant surgical complications and his nutritional status is improved.

Conclusion
Chronic abdominal distention followed by malnutrition and developmental delay can present as a complication of hirschsprung's disease in older children. Clinicians should assess their patient's clinical presentation & past illness comprehensively to open up the possibility of hirschsprung's disease and plan the best treatment