Pulmonary interstitial glycogenosis

INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is an idiopathic lung condition that remains clinically underrecognized despite a growing body of literature. CASE REPORT: We present a case of PIG with pulmonary hypertension without underlying cardiac disease. This patient presented with respiratory distress and spontaneous pneumothorax at 6 months of age. Laboratory and imaging investigations demonstrated nonspecific features, but refractory pulmonary hypertension was confirmed on cardiac catheterization...

Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis...

Pulmonary interstitial glycogenosis is an interstitial lung disease of childhood that has been increasingly reported over the past decade. Here, we present a case of pulmonary interstitial glycogenosis associated with trisomy 21, pulmonary arterial hypertension, and congenital heart disease in a 34 week premature infant.

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The differential diagnosis of diffuse lung disease in children differs considerably from adults, and analysis of pediatric lung biopsies may prove challenging for pathologists with more extensive exposure to adult lung biopsies. Biopsy diagnosis of pediatric lung disease continues to evolve as new pathologic entities are recognized and new genetic determinants of disease are discovered. This article describes the clinical characteristics, pathologic features, and differential diagnosis of challenging and recently described entities in pediatric lung disease...

Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD), without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia...

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")...

Interstitial lung diseases (ILD, diffuse lung diseases) are a heterogeneous group of diseases in which a pathological process primarily involved alveoli and perialveolar interstitium, resulting in impaired gas exchange, restrictive changes of lung ventilation function and diffuse interstitial changes detectable by X-ray. Children's interstitial lung diseases is an topical problem ofpediatricpulmonoogy. The article presents current information about classification, epidemiology, clinical presentation, diagnostics, treatment and prognosis of these rare diseases...

Transposition of the great arteries with intact ventricular septum and persistent pulmonary hypertension (TGA-IVS PPHN) is a rare association with a poor prognosis. We report the case of a term newborn with TGA-IVS PPHN successfully managed with perioperative extracorporeal membrane oxygenation (ECMO) and aggressive pulmonary vasodilation therapy that underwent successful arterial switch procedure. A lung biopsy obtained during the surgical procedure showed pulmonary interstitial glycogenosis, a reversible condition...

AIMS: We have analysed levels of bombesin-positive neuroendocrine cells (NECs) in neuroendocrine cell hyperplasia of infancy (NEHI) and other childhood interstitial lung diseases (chILDs) in order to validate proposed histological criteria for NEHI and investigate its aetiology. METHODS AND RESULTS: The extent of bombesin-positive cells within airway epithelium was analysed in lung biopsies from seven patients diagnosed with NEHI, including two classified previously as non-diagnostic, and other chILDs (n = 64) with age ranges of 1 month-18 years...

The window duct is a rare congenital anomaly that is physiologically similar to an aortopulmonary window but is extrapericardial at the distal pulmonary trunk. The diagnosis is challenging, and surgical management is complex. Our patient is the first and the youngest to be reported with successful closure and diagnosed by magnetic resonance imaging.

Fetal lung interstitial tumor, a newly recognized lung lesion in infants, was first reported in 2010. Here, we report the first Japanese case of fetal lung interstitial tumor which was originally diagnosed as atypical congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. A 7-day-old girl was referred to our hospital with respiratory distress and a left lung mass and she subsequently underwent left lower lobectomy. The specimen showed a 5 cm solid mass with a fibrous capsule...

Pediatric diffuse lung diseases are rare disorders with an onset in the neonatal period or in infancy, characterized by chronic respiratory symptoms and diffuse interstitial changes on imaging studies. Genetic disorders of surfactant homeostasis represent the main etiology. Surfactant protein B and ABCA3 deficiencies typically cause neonatal respiratory failure, which is often lethal within a few weeks or months. Although heterozygous ABCA3 mutation carriers are mostly asymptomatic, there is growing evidence that monoallelic mutations may affect surfactant homeostasis...

We describe an infant prenatally diagnosed with hydrops fetalis ultimately found to have Noonan syndrome (NS). Prior to genetic confirmation of diagnosis, lung biopsy was performed which revealed widespread pulmonary interstitial glycogenosis (PIG), abnormal alveolarization, and mild inflammation. Although genetic alterations have been identified in NS, the mutations are heterogeneous and the diagnosis remains one of clinical suspicion. The combination of PIG and NS has not yet been documented in the literature...

Children's interstitial lung disease (ILD) includes a wide range of rare respiratory disorders associated with high morbidity and mortality. Genetic factors, systemic disease processes, nonspecific inflammatory or fibrotic patterns of repair seen in a number of clinical settings are involved in the ILD pathogenesis. Specific disorders more prevalent in young children include diffuse developmental disorders, alveolar growth abnormalities, genetic surfactant disorders, pulmonary interstitial glycogenosis and neuroendocrine cell hyperplasia of infancy...

We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2-q14 and a 25.12 kb deletion in 5pter. The 15q11.2-q14 deletion encompassed the 15q11.2-q13 Prader-Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with similar deletions in chromosome 15q exhibit expanded phenotype of severe developmental delay, protracted feeding problem, absent speech, central visual impairment, congenital malformations and epilepsy in addition to those typical of PWS...

Pulmonary interstitial glycogenosis (PIG) is an idiopathic interstitial lung disease of infants. The underlying pulmonary pathophysiology of PIG has not been well characterized. Herein we report a term-gestation infant who presented with persistent tachypnea and hypoxia. A chest CT scan demonstrated a diffuse ground glass appearance and lung biopsy demonstrated increased alveolar septae cellularity with glycogen-containing cells, consistent with a diagnosis of PIG. At 3 months of age, pulmonary function testing included: pre- and post-bronchodilator forced expiratory flows using the raised-volume technique and the ratio of pulmonary diffusing capacity for carbon monoxide to alveolar volume (DLCO /VA )...

The term "children's interstitial lung disease" (chILD) refers to a heterogeneous group of rare and diffuse lung diseases associated with significant morbidity and mortality. These disorders include neuroendocrine cell hyperplasia of infancy, pulmonary interstitial glycogenosis, surfactant dysfunction mutations, and alveolar capillary dysplasia with misalignment of pulmonary veins. Diagnosis can be challenging, which may lead to a delay in recognition and treatment of these disorders. Recently, International Classifications of Diseases, Ninth Revision codes have been added for several of the chILD disorders...

BACKGROUND: Pulmonary interstitial glycogenosis (PIG) arises from a developmental disorder of the pulmonary mesenchyme and presents clinically with reversible neonatal respiratory distress and/or persistent pulmonary hypertension of the newborn (PPHN). OBJECTIVE: We report two cases of PIG in patients with congenital heart disease (CHD) and evidence of PPHN. RESULTS: Both cases demonstrated the hallmark PIG histologic finding of diffuse, uniform interstitial thickening due to the presence of immature interstitial cells containing abundant cytoplasmic glycogen...

A neonate with pulmonary interstitial glycogenosis, pulmonary hypertension, and hypertrophic cardiomyopathy is described. The fatal outcome for this patient contrasts with the reported favorable prognosis associated with isolated pulmonary interstitial glycogenosis. To the authors' knowledge, the association of pulmonary interstitial glycogenosis and hypertrophic cardiomyopathy has not been reported previously. The authors have broadened the phenotype of pulmonary interstitial glycogenosis and demonstrate the diagnostic value of lung biopsy in cases of unexplained neonatal pulmonary hypertension...