Exacerbations in neuroendocrine cell hyperplasia of infancy are characterized by increased air trapping.

Neuroendocrine cell Hyperplasia of Infancy (NEHI) presents with tachypnea, retractions, hypoxemia, and often failure to thrive. The radiologic and physiologic findings in infants with NEHI have been well described with a distinct geographic pattern of ground-glass opacities on chest computerized tomography imaging and profound air-trapping on infant pulmonary function testing. Despite gradual improvement over time, unexplained exacerbation has been observed but not well characterized. We present physiological and radiological changes of increased air-trapping during acute exacerbations in two older children with NEHI who had previously experienced significant clinical improvement. These cases illustrate previously undescribed manifestations of NEHI in older children.

Persistent Tachypnea of Infancy. Usual and Aberrant.

RATIONALE: Persistent tachypnea of infancy (PTI) is a specific clinical entity of undefined etiology comprising the two diseases neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis. The outcome of typical NEHI is favorable. The outcome may be different for patients without a typical NEHI presentation, and thus a lung biopsy to differentiate the diseases is indicated. OBJECTIVES: To determine whether infants with the characteristic clinical presentation and computed tomographic (CT) imaging of NEHI (referred to as "usual PTI") have long-term outcome and biopsy findings similar to those of infants with an aberrant presentation and/or with additional localized minor CT findings (referred to as "aberrant PTI"). METHODS: In a retrospective cohort study, 89 infants with PTI were diagnosed on the basis of clinical symptoms and, if available, CT scans and lung biopsies. Long-term outcome in childhood was measured on the basis of current status. MEASUREMENTS AND MAIN RESULTS: Infants with usual PTI had the same respiratory and overall outcomes during follow-up of up to 12 years (mean, 3.8 yr) as infants who had some additional localized minor findings (aberrant PTI) visualized on CT images. Both usual and aberrant PTI had a relatively favorable prognosis, with 50% of the subjects fully recovered by age 2.6 years. None of the infants died during the study period. This was independent of the presence or absence of histological examination. CONCLUSIONS: PTI can be diagnosed on the basis of typical history taking, clinical findings, and a high-quality CT scan. Further diagnostic measures, including lung biopsies, may be limited to rare, complicated cases, reducing the need for an invasive and potentially harmful procedure.

111In-Pentetreotide Imaging in Diffuse Idiopathic Neuroendocrine Hyperplasia of the Lung.

Diffuse idiopathic endocrine neoplasia of the lung (DIPNECH) is a rare disease characterized by proliferation of neuroendocrine cells in the bronchial wall. Less than 20 cases of DIPNECH have been reported in imaging literature. We present here a case of histopathologically diagnosed DIPNECH with diffusely increased In-octreotide uptake in both lungs.

DIPNECH: when to suggest this diagnosis on CT.

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is an under-recognized disease characterized by proliferation of neuroendocrine cells in the bronchial wall. It is considered a pre-invasive lesion for lung carcinoid tumours and is found in 5.4% of patients undergoing surgical resection for lung carcinoid tumours. Other manifestations of DIPNECH include bronchial obstruction and formation of tumorlets. DIPNECH preferentially affects middle-aged women. Patients are either asymptomatic or present with long-standing dyspnoea due to obstructive syndrome that can be mistaken for asthma. At CT, mosaic attenuation with multiple small nodules is very suggestive of DIPNECH. The aim of this review is to describe DIPNECH-related CT features and correlate them with histology, in order to help radiologists suggest this diagnosis and distinguish DIPNECH from other causes of mosaic perfusion.

Imaging appearances of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia.

OBJECTIVE: The objective of the study was to describe the imaging appearances of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) on computed tomography (CT). MATERIALS AND METHODS: Electronic medical records were searched for patients with pathology-proven DIPNECH who had a CT available for review. Eleven patients were included. RESULTS: The most common finding on CT was small pulmonary nodules which were present in all patients and were multiple (≥5) in 7/11 patients. Other CT findings included mosaic pattern attenuation and bronchial wall thickening/bronchiectasis. CONCLUSION: DIPNECH should be considered as a diagnostic possibility when multiple small pulmonary nodules are identified on CT, particularly if there is an associated carcinoid tumor.

¹8F-DOPA PET/computed tomography imaging.

18F-DOPA is a radiopharmaceutical with interesting clinical applications and promising performances in the evaluation of the integrity of dopaminergic pathways, brain tumors, NETs (especially MTCs, paragangliomas, and pheochromocytomas), and congenital hyperinsulinism. 18F-DOPA traces a very specific metabolic pathway and has a very precise biodistribution pattern. As for any radiopharmaceutical, the knowledge of the normal distribution of 18F-DOPA, its physiologic variants, and its possible pitfalls is essential for the correct interpretation of PET scans. Moreover, it is important to be aware of the potential false-positive and false-negative episodes that can occur in the various clinical settings.

Familial neuroendocrine cell hyperplasia of infancy.

BACKGROUND: Neuroendocrine cell hyperplasia of infancy (NEHI) is a recently described children's interstitial lung disease (chILD) disorder of unknown etiology. It manifests clinically with tachypnea, retractions, hypoxemia, and crackles. The characteristic radiographic appearance consists of pulmonary hyperexpansion and ground-glass densities on high-resolution computed tomography (HRCT). Lung histology shows hyperplasia of bombesin-immunopositive neuroendocrine cells within distal bronchioles and alveolar ducts without other identifiable lung pathology or developmental anomaly. METHODS: We describe four families with multiple siblings diagnosed with NEHI. Cases were identified at three pediatric centers. Inclusion criteria included clinical findings consistent with NEHI, lung biopsy confirmation in the index case, and a diagnostic HRCT or biopsy in other siblings. RESULTS: Each family had a proband diagnosed with NEHI based upon pathologic review, and at least one additional sibling diagnosed either by pathologic review or HRCT. All patients presented between 2 and 15 months of age. Both male and female children were affected. The majority of the patients underwent both HRCT and lung biopsy. There were no deaths among affected children. No environmental exposures or other potential etiologies were identified as a cause of presenting symptoms. CONCLUSIONS: The familial occurrence of NEHI suggests the possibility of a genetic etiology for this disorder and highlights the importance of taking a complete family medical history for infants presenting with a suggestive clinical picture. Identification of familial NEHI patients allows for the opportunity to further our understanding of this disorder, its natural history, the phenotypic spectrum, and potential genetic causes.