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Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in SLC6A8. Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.

Pneumatosis intestinalis (PI) is often seen secondary to necrotizing enterocolitis in premature infants in association with perinatal stress. Surgical intervention is frequently necessary to prevent extensive necrosis of the bowel wall, sepsis, and death. PI is an unusual finding in children beyond the first year of life, and medical treatment is usually sufficient. We report the case of a 7-year-old child with spastic quadriplegic cerebral palsy and chronic, persistent, unexplained diarrhea in whom hematochezia developed and who was found to have pneumatoceles in the wall of his large bowel. An extensive evaluation led to the diagnosis of medication-induced chronic diarrhea with associated PI, and conservative treatment reversed the process. The diagnosis and treatment of PI in the child beyond the neonatal period are reviewed in this report. C.T. was born to a gravida 3, para 1 mother after a 37-week gestation, which was complicated only by early dilation of the cervix. The labor and delivery were normal; his birth weight was 2826 g; and he was discharged after a short, uncomplicated neonatal stay. On the third day of life he was readmitted to the hospital with a fever and a generalized seizure, secondary to group B streptococcal meningitis. Renal and cardiac failure subsequently developed, and he required ventilatory support for the next 3 to 4 weeks. Bilateral infarctions of his brain resulted in diffuse cerebral atrophy, compensatory hydrocephalus, microcephaly, blindness, spastic quadriplegic cerebral palsy, a seizure disorder, and profound developmental delay. Because of repeated episodes of aspiration pneumonia, many secondary to gastroesophageal reflux, fundoplication and gastrostomy were performed. Subsequently, he has received all of his nutrition through a gastrostomy tube. Throughout most of his 8 years of life, he has had loose stools, and at 7½ years of age he began having intermittent bright red blood mixed with the stools. …

Background.Necrotizing enterocolitis (NEC) is a life-threatening condition of the neonatal age, which frequently requires surgical intervention. After extensive bowel resection, a small proportion of these patients may develop chronic short gut syndrome (SGS) and require chronic total parenteral nutrition (TPN) use. Intestinal transplantation has been performed in these patients as a life-saving option.This study reviews our experience with intestinal transplantation for SGS attributable to NEC emphasizing the mode of presentation, natural history, timing, and outcome.Methods.A retrospective chart review was performed for all pediatric patients who underwent small bowel transplantation for NEC at the University of Miami between August 1994 and March 1999.Results.Eleven transplants were performed for 10 patients with NEC (8 male and 2 female; median age: 1.75 years [range: 10 months to 10.1 years]). Procedures performed were isolated intestinal transplants (n = 2), combined liver-intestinal transplants (n = 6), and multivisceral transplants (n = 3). All patients were born prematurely with median birth weight of 1.640 kg (range: 810 g to 2.730 kg). They developed NEC in the first few days of life and subsequently underwent an average of 5 surgeries per patient before transplant. Transplant was indicated for liver failure in 8 patients and recurrent central line sepsis in 2 others.At present, 6 patients are alive with an overall 1-year and 3-year actuarial survival of 60% and a median follow-up of 29 months (range: 9–46 months). Six children have been weaned off TPN after a median time of 71 days (range: 19–131) from transplantation. All survivors are at home with functional grafts.Conclusion.Intestinal transplantation provided a reasonable outcome in patients with NEC-associated SGS who had already developed life-threatening complications related to TPN. Intestinal transplantation replaced the diseased intestine and liver, enfranchised patients from TPN, and conferred improved quality of life. These patients should be actively considered for intestinal transplantation and referred to a transplant center as soon as possible.