Screening for developmental hip dysplasia by ultrasound (US) is most accurate after 6 weeks corrected gestational age (CGA). Scanning earlier increases false-positive rates, leading to repeat exams, stress for families, higher healthcare costs, and exposure of unvaccinated infants to sick patients. We noted that many premature infants were scheduled for hip US before 6 weeks CGA. Working with a multidisciplinary Quality Improvement (QI) team, we aimed to reduce the incorrectly scheduled exam rate from 50% to below 25% within 6 months. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Benyakoub Amine, Ehrlich Lauren

Keywords: Hip Dysplasia, QI, PDSA

Pallister-Hall syndrome is an exceedingly rare genetic disorder characterized by multiorgan anomalies encompassing hypothalamic hamartoma, postaxial polydactyly, bifid epiglottis, renal malformations and imperforate anus. The syndrome arises from a mutation in the GLI3 gene, which can be inherited in autosomal dominant fashion or occur de novo. A significant manifestation of Pallister-Hall syndrome is the presence of a hypothalamic hamartoma, a benign tumor of the hypothalamus. Although benign, these lesions can cause severe endocrine dysfunction by interfering with the hypothalamic-pituitary axis. Abnormal neural or glial cell migration in the tuber cinereum of the hypothalamus leads to abnormal expansion of the hypothalamus, manifesting in a spectrum of pituitary dysfunction ranging from pituitary displacement to severe pan-hypopituitarism. A well-established feature of the hypothalamic hamartomas associated with Pallister-Hall syndrome is the incidence of gelastic seizures (so-called “laughing” seizures), characterized by episodes of involuntary laughing. A male neonate was born with polydactyly, bifid epiglottis, cryptorchidism, and Hirschsprung’s disease. The patient was additionally found to have right sided vesicouteral reflux requiring extravesical ureteral reimplantation. Genetic analysis revealed a mutation in the GLI3 gene, compatible with Pallister-Hall syndrome. Once diagnosed, the patient underwent contrast-enhanced MR imaging of the brain which demonstrated a large lobulated 2.6 x 2.0 cm suprasellar mass with encroachment posteriorly upon the midbrain and associated superior displacement of the third ventricle. The lesion showed low-grade enhancement following gadolinium contrast administration, displayed no significant abnormality on diffusion-weighted or susceptibility weighted imaging, and was isodense to brain tissue on all sequences. Serial follow-up MRIs demonstrated minimal increase in size of the non-enhancing suprasellar mass. Findings were suggestive of hypothalamic hamartoma, in keeping with the classical presentation of Pallister-Hall syndrome. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Chen Danling, Kuehne Alexander, Hwang James, Benyakoub Amine, Ehrlich Lauren, Lisse Sean

Keywords: Pituitary Abnormalities, Genetics, Genitourinary

Filamin A (FLNA) is a widely expressed X-linked dominant gene that encodes Filamin A, a protein that crosslinks actin filaments and plays a crucial role in the structure of the cell cytoskeleton. With such a broad role, FLNA mutations are especially consequential and can result in cardiovascular malformations, intellectual disability, skeletal dysplasia, and neuronal migration abnormalities. Additionally, recent literature has linked FLNA mutation to pediatric-onset interstitial lung disease. A three-month-old female with a history of atrial septal defect, patent ductus arteriosus, pulmonary valve dysplasia, micrognathia, and recent hospitalization for parainfluenza infection causing respiratory failure presented to the emergency department with worsening hypoxemia and respiratory distress. Initial chest radiograph demonstrated an interval increase in bilateral patchy opacifications suggestive of worsening multifocal infection. The patient was subsequently admitted. The patient’s clinical status failed to improve after multiple days of admission. A non-contrast CT study of the chest revealed multiple regions of air trapping, atelectasis, coarsened interstitial markings, and diffuse septal thickening, differential diagnosis included interstitial lung disease versus congenital alveolar abnormality. Of note, MR imaging of the brain obtained showed diffuse nodularity along the subependymal lining of the lateral ventricles and temporal horns, compatible with gray matter heterotopia. This prompted genetic testing which revealed Filamin A deficiency. Filamin A mutation typically presents radiographically with hyperinflation of the lungs with scattered atelectasis, which can be complicated by concomitant pneumonia. This appearance can mimic pulmonary emphysema and bronchopulmonary dysplasia. Cardiac anomalies are a common manifestation of the mutation; notably, our patient had a history of a dysplastic pulmonary valve, ASD and PDA. CT imaging patterns vary and can present as a combination of cystic and diffuse ground-glass changes, hyperinflation, and emphysema. After extensive consultation, our patient transitioned to palliative care and ultimately passed away at 5 months of age. Maintaining a high index of suspicion for this rare but important entity is crucial to accurately diagnosing this inherited mutation, treating affected patients appropriately, and providing patients and their families with essential information regarding prognosis and inheritance patterns. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Hwang James, Chen Danling, Kuehne Alexander, Benyakoub Amine, Tu Long, Lisse Sean, Ehrlich Lauren

Keywords: Interstitial Lung Disease, Genetics, Chest Computed Tomography (CT)