Intussusception is the invagination of a proximal bowel segment into a distal segment causing bowel obstruction, especially in children. In some cases, it can be caused by a pathological lead point, such as Burkitt lymphoma. Burkitt lymphoma has several patterns of clinical presentations, such as jaw or facial bone tumor in the endemic form, in contrast to an abdominal presentation most often with massive disease and ascites. We describe a case of a 4-year-old male who presented bowel obstruction. Using X-ray and ultrasound findings, ileocecal intussusception was then diagnosed. Resection and anastomosis was performed after multiple trials of failed hydrostatic reduction. On the pathology report of the resected segment, Burkitt lymphoma was found to be the cause and chemotherapy was initiated. The patient is doing well and is following up every 6 months for 2 years. A pathological lead point, especially Burkitt lymphoma, should be suspected in patients with failed conservative treatment, and prompt diagnosis of the pathology should be performed to prevent further sequela of the disease.

Raed Al-Taher

Abdallah Alabadla

Salameh Al-Halaseh

Ghasaq Saleh

Intussusception in a 4-Year-Old Male Due to Burkitt Lymphoma

Background. Splenic abscesses are rare and potentially fatal. Diagnosis is often delayed due to vague symptoms, and laboratory findings are varying and often nonspecific. Ultrasound and computed tomography have a high sensitivity in detecting splenic abscesses. Splenectomy was previously considered the gold standard for treatment, but in recent years, a shift has been seen towards a more conservative approach, i.e., ultrasound-guided aspiration or drainage in combination with adequate antibiotics in selected cases. Case Report. A previously healthy adolescent complained of left-sided chest pain, pain in the left clavicular region for three weeks, and recent fever. Ultrasound and computed tomography demonstrated an intrasplenic abscess. The patient was successfully treated with two percutaneous fine-needle punctures and adequate antibiotics for six weeks. Salmonella enterica serotype Poona was grown from the aspirate. At one-year follow-up, the patient remained healthy without signs of recurrence. Conclusion. The present case report demonstrates that ultrasound-guided aspiration and subsequent treatment with antibiotics may be an effective alternative to splenectomy in patients with a splenic abscess.

Anne Sofie Steinbring Jørgensen

Ivan Arsic

Niels Pedersen

Lena Hagelskjær Kristensen

Michael F. Nielsen

Thomas Balslev

Splenic Abscess in an Adolescent due to Salmonella enterica Conservatively Treated with Ultrasound-Guided Fine-Needle Aspiration

Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, hypotonia, microcephaly, dysmorphic facial features such as ptosis, epicanthal folds, hypertelorism and micrognathia, and relatively small hands and feet. Our patient was a full-term low birth weight (2150 gm) female newborn, showing cleft upper lip and palate (hard and soft palate), bilateral congenital Talipes Equinovarus with rocker bottom foot, microcephaly, atrial septal defect. She was initially conservatively managed with gavage feeding, then shifted into paladai feeding of expressed breast milk. A multidisciplinary approach was adopted due to various malformations and for the potential occurring complications. To our knowledge, this is the first case diagnosed during the neonatal period.

Deepa Banker

Bhavdeep Mungala

Zankhana Parekh

Shachi Ganatra

Vimal Maheshwari

Yashica Raj

Utsav Patel

Digant Patel

Kishan Chamar

Vasu Solanki

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Pulmonary agenesis is a rare congenital anomaly of unknown cause, consisting of a complete absence of the lung parenchyma, bronchi, and vascularization. It may or not be associated with other malformations. The authors report a case of right pulmonary agenesis diagnosed in a four-month-old infant who had no previous pathological history and was growing well. The circumstance of discovery was respiratory distress during an infectious episode. The diagnosis was suspected on a standard chest X-ray and confirmed on a chest CT scan. There are no other associated defects. The evolution was good after antibiotic therapy. While bilateral pulmonary agenesis is incompatible with life, the unilateral form may remain unrecognized until adulthood. The prognosis depends mainly on the importance of the associated malformations.

S. Aimée Kissou

Souleymane B. W. Adjaba

Jacqueline Tamini

Hélène Traore

Unilateral Pulmonary Agenesis about a Case Revealed by an Acute Respiratory Infection in a Young Infant

Foreign body ingestion is one of the common problems among children. A three-year-old girl presented to the emergency department 2 h after ingesting three small disk-type neodymium magnets. She had no gastrointestinal symptoms. Abdominal radiography revealed a foreign body in the left upper quadrant, which was the three circular magnets. Fluoroscopy was performed. She was placed in the right lateral decubitus position for 3 min and slowly returned to the supine position. Abdominal fluoroscopy revealed a foreign body migrating near the middle of the spine. Similarly, when she was placed in the left lateral decubitus position for 3 min and slowly returned to the supine position, the foreign body migrated to the outermost part of her left upper quadrant. Thus, we anticipated that the magnets could be excreted spontaneously. The patient did not develop any gastrointestinal symptoms after returning home, and two days later, three overlapping magnets were finally found in her stool. During accidental ingestion of single or multiple desk-type neodymium magnets, endoscopic removal may not be necessary if they are mobile and clump together in the stomach. Regarding the ingestion of multiple desk-type neodymium magnets, fluoroscopy is useful to determine the extent of endoscopic intervention.

Toshihiko Kakiuchi

Tetsuya Nosho

Advantages of Fluoroscopy for Accidental Ingestion of Multiple Magnets

Background. Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and severe generalized hypotonia. Without treatment, most patients die within the first two years of life. The demonstration of reduced GAA activity, followed by sequencing of the GAA gene, confirms the disease. GAA deficiency is currently treated with enzyme replacement therapy (ERT) with improved clinical outcomes and survival. Case Presentation. We describe the case of DGAA in two siblings, in which the diagnostic time point, treatment, and outcomes were completely different. The girl was diagnosed with DGAA at the age of 6 months during investigations for poor weight gain and excessive sleepiness. The finding of severe cardiomyopathy through EKG and echocardiography led to the suspicion of storage disease, and the GAA deficiency was later confirmed by genetic analysis. The girl died of complications due to the clinical picture before starting ERT. Conversely, her younger brother had the opportunity to receive an early diagnosis and the rapid onset of ERT. He is showing a regression of cardiac hypertrophy. Conclusion. The advent of ERT improved clinical outcomes and survival in infantile-onset PD. Its impact on cardiac function is still under study, but different reports in the literature have shown encouraging data. Early recognition of DGAA and prompt initiation of ERT is therefore crucial to prevent the progression of the disease and improve the outcomes.

Marco Lecis

Katia Rossi

Maria Elena Guerzoni

Ilaria Mariotti

Lorenzo Iughetti

Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe Disease: A Familial History

Potter syndrome, first reported in 1946 by Edith Potter, refers to fatal cases of bilateral renal aplasia with pulmonary hypoplasia, peculiar facial features, and limb deformities. Presently, patients with oligohydramnios showing similar pathological manifestations due to oligohydramnios caused by conditions other than bilateral renal aplasia have been reported, and are known as the Potter sequence. There are limited studies and unclear guidelines on the safest delivery time and detailed postpartum management for patients with the Potter sequence. We experienced a case of Potter sequence, in which the patient was born by elective cesarean section at gestational age (GA) of 34 weeks. Fetal ultrasound at GA of 26 weeks 4 days showed oligohydramnios, multilocular cystic lesions in the left kidney, and an absent right kidney. Prenatal fetal MRI at GA of 33 weeks and 3 days showed pulmonary hypoplasia, and the ratio of fetal lung volume (FLV) to fetal body weight (FBW) was 0.0135 ml/g. We suspected that the fetal lung could not grow because of persistent oligohydramnios, which leads to a further decline in the ratio of FLV to FBW during pregnancy. We performed a cesarean section at GA of 34 weeks to prevent the exacerbation of the imbalance between lung volume and physique. We struggled to keep her condition stabilized with strict management of her respiratory condition, dialysis, and nutrition. She was discharged from the hospital at 169 days of age. Elective caesarean section in the term of premature birth prevented the progression of pulmonary hypoplasia and made it possible to save her life. Potter sequence is still relatively unknown, and it is necessary for more studies to be conducted in the future.

Yuya Kinoshita

Rieko Sakamoto

Yusuke Hattori

Keishiro Furuie

Shohei Kuraoka

Yuko Hidaka

Hiroshi Tamura

Hiroshi Mitsubuchi

Kimitoshi Nakamura

Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter Sequence

Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. Here, we report a case of intestinal failure due to congenital tufting enteropathy in a 3-year-old girl who presented with loose stools and failure to thrive. This study aims to review the literature about CTE and discuss the clinicopathological aspects and to be able to distinguish it from other causes of congenital diarrheal disorders (CDDs).

Shooq Alkhalifa

Aysha Darwish

Mohamed Awadh

Salman M. Alkhalifa

Abdulla Darwish

Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations

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Case Reports in Pediatrics publishes case reports and case series related to pediatric subspecialities such as adolescent medicine, cardiology, critical care, dentistry, developmental and behavioral medicine, endocrinology, gastroenterology etc.

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Case Reports in Pediatrics - Table of contents 2023

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Case Reports in Pediatrics publishes case reports and case series related to pediatric subspecialities such as adolescent medicine, cardiology, critical care, dentistry, developmental and behavioral medicine, endocrinology, gastroenterology etc.

Case Reports in Pediatrics