Pulmonary interstitial glycogenosis

Pulmonary interstitial glycogenosis (PIG) is known to be associated with a wide variety of congenital conditions, though the extent to which PIG contributes to clinical presentation and outcomes in infants remains controversial. We describe two cases of infants with congenital anomalies and respiratory distress at birth who were diagnosed with PIG with differing clinical courses and response to methylprednisolone therapy. These cases highlight the importance of improved recognition of PIG and uncertainties about which patients may benefit from treatment...

Multiple lung cysts are one of the major features of Birt-Hogg-Dubé syndrome (BHD), but little is known about their nature and pathogenesis. We report a case of a woman diagnosed with BHD lung cysts who exhibited pulmonary interstitial glycogenosis (PIG), a mesenchymal abnormality hitherto undescribed in this disease, in specimens resected at 14 and 29 years of age. Histopathologically, oval to spindle clear cells were seen in the subepithelial interstitial tissue of septal structures and the walls of the cysts...

INTRODUCTION: Lung biopsy is infrequently performed in the population of infants with severe bronchopulmonary dysplasia (BPD). Yet, its presentation may overlap with other infant diffuse lung diseases, including those within the spectrum of childhood interstitial lung diseases (chILD). Lung biopsy might differentiate between these entities or identify those with an extremely poor prognosis. Both might alter the clinical management of some infants diagnosed with BPD. METHODS: In this tertiary referral center, we drew on a retrospective cohort of 308 preterm infants with severe BPD...

Interstitial lung diseases (ILDs) are not just a matter of scarring or inflammation in the lung tissue. The lungs can also serve as a repository for products that can be produced in excessive amounts in the human body as a result of disease. Geneticaly based dysfunctions of lysosomal enzymes, which leads to an unefficient degradation and transport of various macromolecules from lysosomes, are considered to be storage diseases sensu stricto. ILDs were described in patients with Gaucher disease, Niemann-Pick disease and Fabry disease...

An extremely dystrophic, premature female infant, born at 25 3/7 weeks of gestational age (birth weight: 430 g) with severe pulmonary hypertension (PH), was admitted to our neonatal intensive care unit (ICU) requiring cardiorespiratory support, including mechanical ventilation and pulmonary vasodilators such as inhaled nitric oxide (iNO) and continuous intravenous sildenafil infusions. The diagnosis of bronchopulmonary dysplasia (BPD) was made. A hemodynamically relevant, persistent ductus arteriosus (PDA) was surgically ligated after failed pharmacologic PDA closure using indomethacin and ibuprofen...

BACKGROUND: Children's interstitial lung disease (chILD) is a rare group of pediatric lung diseases affecting the lung interstitium diffusely. In this work, we focused our attention on a specific infant group of chILD, also known as "specific conditions of undefined aetiology", including pulmonary interstitial glycogenosis (PIG) and neuroendocrine cell hyperplasia of infancy (NEHI). METHODS: PubMed was searched to conduct this narrative review. We searched for articles in English using the following keywords: (1) neuroendocrine cell hyperplasia of infancy; (2) NEHI; (3) pulmonary interstitial glycogenosis; (4) PIG; (5) chILD...

Congenital lobar emphysema (CLE)/congenital alveolar overdistension/congenital lobar overinflation or infantile lobar emphysema is a rare developmental anomaly of the lower respiratory tract which is characterised by hyperinflation of one or more of the pulmonary lobes. Histopathology may be variable, which may show abnormality in the cartilage, granulation tissue, mucosal folds, etc. We report a rare underlying histopathology in a preterm neonate with CLE. This entity referred to as pulmonary interstitial glycogenosis (PIG) is a group of heterogeneous lung disease affecting the lung parenchyma and is characterised by the presence of glycogen laden cells in the lung interstitium...

We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn. Developmental arrest, pulmonary vascular hypertensive changes, and pulmonary interstitial glycogenosis were present on lung biopsy at 7 weeks of age. Pulmonary hypertension has persisted through childhood. Genetic testing at 8 years identified a novel mutation in TBX4.

BACKGROUND: We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed, pulmonary interstitial glycogenosis is of unknown etiology and is diagnosed by lung biopsy. Pulmonary interstitial glycogenosis has not previously been described in association with Jacobsen syndrome. CASE PRESENTATION: A term newborn small for gestational age Caucasian girl presented with respiratory distress, pulmonary hypertension, congenital heart defects, immunodeficiency, and thrombocytopenia...

Congenital interstitial lung diseases can affect both adults and children. Pediatric congenital interstitial lung diseases generally carry high risk for morbidly and mortality and include congenital alveolar capillary dysplasia with misalignment of pulmonary veins, congenital alveolar dysplasia, acinar dysplasia, congenital pulmonary lymphangiectasis, diffuse pulmonary lymphangiomatosis, neuroendocrine cell hyperplasia of infancy, pulmonary hemosiderosis, pulmonary alveolar proteinosis, and pulmonary interstitial glycogenosis...

The term children interstitial lung diseases (chILD) refers to a heterogeneous group of rare diseases that diffusely affect the lung. ChILD specific to children younger than 2 years of age include diffuse developmental disorders, growth abnormalities, specific conditions of undefined etiology (neuroendocrine cell hyperplasia of infancy and pulmonary interstitial glycogenosis) and surfactant protein disorders. Clinical manifestations are highly variable, ranging from the absence of relevant symptoms to a severe onset...

There is a wide differential diagnosis of early onset respiratory distress especially in term babies, and interstitial lung disease (chILD) is a rare but important consideration in this context. chILD manifesting immediately after birth is usually related to mutations in surfactant protein genes, or conditions related to the Congenital Acinar Dysplasia -Alveolar capillary dysplasia - Congenital Alveolar Dysplasia (CAD-ACD) spectrum. There is currently no specific treatment for these conditions, and management is supportive...

A preterm 32-week neonate presented on the 14th day of life with respiratory distress and cyanosis. The respiratory distress worsened progressively, which was managed with continuous positive airway pressure support. The neonate had blood-tinged oral secretions on the 39th day of life, for which bronchoscopy was performed, whose findings were suggestive of pulmonary hemosiderosis. Lung biopsy confirmed the diagnosis of pulmonary interstitial glycogenosis with pulmonary arterial hypertension. The neonate was treated successfully with systemic corticosteroids and discharged home at 3 months of age...

BACKGROUND: The expression of the NKX2-1 gene and its encoded protein, thyroid transcription factor 1 (TTF-1), plays a role in pulmonary surfactant homeostasis and lung development. NKX2-1 mutations have been associated with neonatal respiratory distress, hypotonia, choreoathetosis and congenital hypothyroidism. These clinical findings have been coined brain-lung-thyroid syndrome, although not all three organs are always involved. While many of these children develop interstitial lung disease, no systematic review of chest high-resolution CT (HRCT) findings has been reported...

Interstitial lung diseases in children (chILD) are rare and diverse. The current classifications include a group of early onset chILD specific to infancy, namely neuro-endocrine cell hyperplasia of infancy (NEHI), pulmonary interstitial glycogenosis (PIG) and the alveolar capillary-congenital acinar dysplasia (ACD-CAD) spectrum, as well as alveolar growth disorders. NEHI and PIG cells are seen in the normal developing foetal lung. We hypothesise that these conditions are in fact overlapping manifestations of pulmonary dysmaturity, respectively of airway, mesenchymal and vascular elements, rather than discrete clinical conditions in their own right...

"Pulmonary Interstitial Glycogenosis: Diagnostic Evaluation and Clinical Course," written by Liptzin et al is a timely and insightful phenotypic summary of a rare pediatric interstitial lung disease. Twenty-four infants with biopsy-proven pulmonary interstitial glycogenosis (PIG) were reviewed at their center. Genetic analysis, bronchoscopy results, imaging, biopsy, and cardiology findings were described, and treatment decision and clinical outcomes were discussed.

OBJECTIVES: We sought to describe the phenotype for patients with P.I.G. including presentation, evaluation, cardiac co-morbidities, high resolution computed tomography findings, and outcomes. METHODS: With institutional review board approval, we performed a retrospective review of patients with biopsy-proven P.I.G. Biopsies, high resolution chest computed tomography, and cardiac evaluations were reviewed and characterized by experts in each field. RESULTS: Sixty-two percent of the patients were male...

A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected scimitar syndrome. She was found to have normal pulmonary venous drainage with a large patent ductus arteriosus and severe pulmonary arterial hypertension. Chest CT was suggestive of interstitial lung disease. Wedge lung biopsy revealed alveolar simplification and patchy pulmonary interstitial glycogenosis. A definitive diagnosis of Filamin A deficiency was made with genetic studies...

BACKGROUND: Pulmonary interstitial glycogenosis (PIG) is a rare paediatric interstitial lung disease of unknown cause. The diagnosis can only be made by lung biopsy. Less than 100 cases have been reported. Clinical features, treatment and outcomes have rarely been assessed systematically in decent cohorts of patients. METHODS: In this retrospective multicentre study, the clinical presentation, radiologic findings, pattern of lung biopsy, extrapulmonary comorbidities, treatment and outcome of eleven children with PIG were collected systematically...

BACKGROUND: Pulmonary interstitial glycogenosis is a form of childhood interstitial lung disease characterized by the histological finding of abundant glycogen-laden mesenchymal cells within the pulmonary interstitium. Patients present in the neonatal period with disproportionate respiratory distress. Often, pulmonary interstitial glycogenosis is accompanied by alveolar simplification complicating recognition and diagnosis. Despite the recognition of pulmonary interstitial glycogenosis as a distinct entity, only a few case reports describing imaging findings are found in the literature, with no published systematic review available...