Eosinophilic enteritis due to cow's milk allergy: Possible cause of anastomosis failure following repair of focal intestinal perforation.

Reports of cow's milk allergy (CMA) after neonatal gastrointestinal surgery have recently increased. In recent years it has been suggested that the development of CMA after gastrointestinal surgery in newborn infants is due to an immune function. In addition, the development of CMA might be synergistically exacerbated by congenital abnormalities of the intestinal mucosa, general conditional changes and local damage to the intestine by invasive surgery, and poor pre- or post-surgical nutrition. CMA manifests as a variety of symptoms, such as mild vomiting and bloody stool, decreased activity, poor oral intake, and ileus. CMA may also rarely cause gastrointestinal perforation. Here, we report the case of a newborn infant who developed CMA following repair of focal small intestinal perforation, in which eosinophilic enteritis was suspected to be a possible cause of anastomosis leakage.

Waterhouse-Friderichsen Syndrome and Central Diabetes Insipidus Due to Escherichia coli Meningitis.

Waterhouse-Friderichsen syndrome and central diabetes insipidus are uncommon but potentially fatal endocrine and metabolic diseases. Waterhouse-Friderichsen syndrome is defined as adrenal insufficiency caused by adrenal hemorrhage, which is typically bilateral and most frequently due to meningococcal infection. It is usually diagnosed by necropsy. Central diabetes insipidus in children is often caused by trauma, intracranial lesions, autoimmune diseases, and infections. In addition, it can be caused by mutations in the AVP-NPII gene, although this occurs typically later in childhood rather than in the neonatal period. This report describes a term infant who developed Escherichia coli meningitis, which resulted in septic shock and disseminated intravascular coagulation. Abdominal ultrasound led to an early diagnosis of bilateral adrenal hemorrhage and appropriate treatment with corticosteroids. Symptomatic central diabetes insipidus developed a few days after the onset of meningitis. Intravenous vasopressin was effective in resolving hemodynamic instability. In conclusion, sepsis and meningitis may have severely affected the endocrine system in this patient. Early diagnosis and appropriate treatment for both diseases may have resulted in better clinical outcomes for this patient.

Campylobacter jejuni Bacteremia in the Term Infant A Rare Cause of Neonatal Hematochezia.

Early-onset sepsis caused by Gram-negative spiral organisms is rarely reported, with Campylobacter fetus being a better known causative agent than other Campylobacter species. We report the case of a 2-day-old girl who presented with hematochezia and bacteremia caused by Campylobacter jejuni. She was born full-term. Her family ate undercooked chicken, and Campylobacter enteritis was diagnosed before her birth.

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

BACKGROUND: Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns. However, there are very few reports on EEG findings in patients with SYS. METHODS: A SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed. RESULTS: Our patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene. CONCLUSIONS: We described an SYS-associated, time-dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function.

Pulmonary Langerhans cell histiocytosis with thyroid involvement manifesting as recurrent bilateral pneumothorax and tension bullae in a 3-year-old child.

INTRODUCTION: Pulmonary Langerhans cell histiocytosis (PLCH) is a well known entity in adults but is exceedingly rare in children. The main complication of PLCH is the occurrence of pneumothorax (PTX) and tension bullae with subsequent recurrence and persistence despite conservative management. CASE PRESENTATION: A 3-year-old child was diagnosed with PLCH with thyroid involvement. Chemotherapy was immediately initiated and continued with chest tube drainage for repeated bilateral PTX. Tension bullae developed in the right lung 1 month after initiating treatment. Emergency resection of the bullae and ligation of pulmonary cysts were performed. On the tenth postoperative day, she developed a tension bulla in the left lung. Emergency thoracotomy was performed. On the tenth postoperative day, chest X-ray and CT suggested return of the right bulla and mediastinal shift, and reoperation was performed. Repeated lung biopsy showed no sign of active LCH. Although her condition improved after the operation, subsequent repeated PTXs occurred and were difficult to treat. She was discharged home after four months. Currently, she is receiving maintenance therapy as an outpatient. During the 12-month follow-up, the pulmonary lesions also showed a tendency for improvement. DISCUSSION: Although it is difficult to treat recurrent PTX and tension bullae in advanced PLCH, continuous treatment of the primary disease (LCH) and the complications of pulmonary lesions can improve prognosis. CONCLUSION: Treatment of PLCH accompanied by recurrent PTX and tension bullae is challenging. The condition can be resolved by treating the primary disease in parallel with combined modality treatment, including surgical operation for complications.

Successful peritoneal dialysis using a percutaneous tube for peritoneal drainage in an extremely low birth weight infant: a case report.

BACKGROUND: Peritoneal dialysis (PD) for acute kidney injury (AKI) of newborns has been performed safely. AKI occurs in 8 to 24% of extremely low birth weight (ELBW) infants. Although PD has only been used occasionally in ELBW infants, prognosis is poor for ELBW infants with AKI. Several reports have described successful PD in these infants, but no guideline-based evidence concerning indications for renal replacement therapy in ELBW infants are currently available. Here, we report on our experience with PD in an ELBW infant with AKI resulting from septic shock. CASE PRESENTATION: A male was born at 24 weeks and 3 days gestation weighing 264 g by emergency cesarean section due to complications of pregnancy in a patient with hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. On day of life (DOL) 15, the inability to ventilate, along with cardiovascular dysfunction, acute kidney injury, and ascites under tension led to the tentative diagnosis of abdominal compartment syndrome (ACS). On DOL 17, placement of a percutaneous drainage tube immediately released compression of the tense abdomen. Although intra-abdominal pressure reduction with percutaneous drainage temporarily improved respiratory status, circulatory impairment persisted and infections were not well controlled. Finally, the patient developed anuria. On DOL 21, peritoneal dialysis (PD) was started by initially inserting a drainage tube. Although the patient had catheter-associated peritonitis, urine output improved by DOL 44 and PD was discontinued on DOL 53. On DOL 75, extubation was conducted without circulatory dysfunction. The patient was discharged on DOL 224. CONCLUSIONS: We emphasize that starting PD treatment before the onset of anuria is important in ELBW infants with AKI. Although the catheter used in our case was initially inserted for drainage of ascites, this type of catheter is sufficiently useful for PD in ELBW infants, and PD using a drainage tube may represent a safe, effective, and minimally invasive treatment for ELBW infants. To our knowledge, this is the first report to describe the use of a percutaneous tube to conduct successful PD for peritoneal drainage in an ELBW infant. This is the lowest-weight ELBW infant with successful PD reported to date.

Three-dimensional echocardiographic pictures of isolated double-orifice mitral valve.

We present a case of a 12-year-old boy with a rare form of cardiac anomaly, isolated double-orifice mitral valve. He was referred to our hospital at 1.5 years old because of heart murmur. Two-dimensional echocardiography showed double-orifice mitral valve without any associated cardiac anomalies. He has been followed carefully without any medication for 11 years. He has had no symptoms and an excellent natural course thus far.