Childhood sarcoidosis: Louisiana experience

Gedalia, Abraham; Khan, Tahir; Shetty, Avinash K.; Dimitriades, Victoria R.; Espinoza, Luis R.

doi:10.1007/s10067-015-2870-9

Cited by 71 publications

(97 citation statements)

References 18 publications

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“…Sarcoidosis is usually associated with increased levels of Ig, ACE, chitotriosidase, vitamin D and calcium. On the other hand, CVID shows decreased levels of Ig, vitamin D, calcium, switched B‐memory, although raised levels of ACE may be documented …”

Section: Discussionmentioning

confidence: 99%

“…Sarcoidosis management depends on disease expression. Corticosteroids play a central role in the treatment even though in case of failure, an attempt with azathioprine, cyclosporine, methotrexate or hydroxychloroquine may be tried …”

Section: Discussionmentioning

confidence: 99%

“…Although sarcoidosis most commonly affects young adults, it may be diagnosed, rarely, in the pediatric age, with an estimated incidence of 29 per 10 000 000 children. Affected children often present non‐specific signs and symptoms in combination with lymphadenopathy, splenomegaly and lung involvement . No pathognomonic clinical signs are visible, and laboratory diagnostic tests are unavailable.…”

Section: Introductionmentioning

confidence: 99%

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Common variable immunodeficiency presenting as sarcoidosis in a 9‐year‐old child

et al. 2019

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Background Granulomatous diseases are a heterogeneous group of conditions characterized by an inflammatory infiltrate with a core of macrophages, epithelioid, giant cells and a corona of fibroblasts and lymphocytes. They are associated with a wide range of disorders such as mycobacterial and fungal infections, neoplasms, immunodeficiencies and systemic inflammatory disorders as sarcoidosis. Case report We report the case of a previously healthy 9‐year‐old male child who presented with persistent cough, diffuse lymphadenopathy, enlargement of liver and spleen and protracted fever. Anemia, lymphopenia and reduced platelet count was reported, with an increase of inflammatory markers. High levels of Angiotensin‐converting enzyme and chitotriosidases were noted. A PET‐CT scan showed increased uptake of 18F‐FDG glucose in multiple lymph nodes in thorax and abdomen and in the spleen. Biopsy of inguinal and bronchial nodes showed nodal granulomatous inflammation. The child was diagnosed with sarcoidosis and treated with corticosteroids with only transient efficacy. Further tests reported panhypogammaglobulinaemia and a reduced pool of B‐memory lymphocytes. Thus, the diagnosis was revised to common variable immunodeficiency (CVID). Conclusion Common variable immunodeficiency is a heterogeneous condition with a highly variable clinical phenotype and a strong association with autoimmune disorders. The presence of noncaseating granuloma and pulmonary lesions, along with extrapulmonary features required a step by step approach to differentiate between CVID and sarcoidosis. This enables early introduction of immunoglobulin replacement therapy and decreases the morbidity and mortality of CVID.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Common variable immunodeficiency presenting as sarcoidosis in a 9‐year‐old child

et al. 2019

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“…In 2011, Wong and colleagues noted hypercalciuria and small renal stones in an 18‐year‐old woman with EOS, and in 2016 Gedalia and colleagues mentioned hypercalcemia in a patient with EOS. However, for either patient, NOD2 mutation analysis was not performed.…”

Section: Discussionmentioning

confidence: 99%

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

Whyte

Lim

McAlister

et al. 2018

Journal of Bone and Mineral Research

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Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities: autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. PGA is characterized by a triad of autoinflammatory problems (dermatitis, uveitis, and arthritis) in early childhood, which suggests the causal NOD2/CARD15 mutations are activating defects. Additional complications of PGA were recognized especially when NOD2 mutation analysis became generally available. However, in PGA, hypercalcemia is only briefly mentioned, and generalized osteosclerosis is not reported, although NOD2 regulates NF-κB signaling essential for osteoclastogenesis and osteoclast function. Herein, we report a 4-year-old girl with PGA uniquely complicated by severe 1,25(OH) D-mediated hypercalcemia, nephrocalcinosis, and compromised renal function together with radiological and histopathological features of osteopetrosis (OPT). The classic triad of PGA complications was absent, although joint pain and an antalgic gait accompanied wrist, knee, and ankle swelling and soft non-tender masses over her hands, knees, and feet. MRI revealed tenosynovitis in her hands and suprapatellar effusions. Synovial biopsy demonstrated reactive synovitis without granulomas. Spontaneous resolution of metaphyseal osteosclerosis occurred while biochemical markers indicated active bone turnover. Anti-inflammatory medications suppressed circulating 1,25(OH) D, corrected the hypercalcemia, and improved her renal function, joint pain and swelling, and gait. Mutation analysis excluded idiopathic infantile hypercalcemia, type 1, and known forms of OPT, and identified a heterozygous germline missense mutation in NOD2 common in PGA (c.1001G>A, p.Arg334Gln). Thus, radiological and histological findings of OPT and severe hypercalcemia from apparent extrarenal production of 1,25(OH) D can complicate NOD2-associated PGA. Although the skeletal findings seem inconsequential, treatment of the hypercalcemia is crucial to protect the kidneys. © 2018 American Society for Bone and Mineral Research.

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“…[57] Causes of ILD typically manifesting in the first 2 years of life include developmental disorders and growth abnormalities of the lung (e.g., acinar dysplasia, alveolar–capillary dysplasia with pulmonary vein misalignment, congenital alveolar dysplasia, pulmonary hypoplasia, bronchopulmonary dysplasia, and structural alveolar abnormalities due to congenital heart disease or chromosomal abnormalities), inborn errors of surfactant metabolism (due to mutations in SPFTB , SPFTC , ABCA3 , or NKX2.1 genes), familial alveolar proteinosis (granulocyte/macrophage colony-stimulating factor [GM-CSF] receptor defects), pulmonary interstitial glycogenesis, and neuroendocrine cell hyperplasia of infancy. [57] In the presence of hepatosplenomegaly, the differential diagnosis of ILD in a toddler would be infectious diseases such as HIV and CMV,[58] Langerhans cell histiocytosis,[58] lysinuric protein intolerance,[9] granulomatous disease such as sarcoidosis,[510] and lysosomal storage disorders (Gaucher disease and Niemann–Pick disease). [511]…”

Section: Case Details (Continued)mentioning

confidence: 99%

Rare disease heralded by pulmonary manifestations

Bajaj¹,

Muranjan²,

Karande³

et al. 2017

Journal of Postgraduate Medicine

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Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi. Blood gas revealed hypoxemia which improved with oxygen administration. Plain X-rays and high-resolution computed tomography of the chest showed perihilar alveolar infiltrates and patchy consolidation. The clinicoradiological features did not support a diagnosis of asthma but favored interstitial lung disease (ILD). Bronchoalveolar lavage was performed as a first-tier investigation. It showed periodic acid–Schiff-negative foamy macrophages. The clues of consanguinity, visceromegaly, ILD, and foamy macrophages in the bronchoalveolar fluid prompted consideration of lysosomal storage disorders as the likely etiology. Gaucher disease and Niemann–Pick disease A/B were ruled out by enzyme estimation. Niemann–Pick disease type C was suspected and confirmed by detecting a homozygous mutation in the NPC2 gene. This case serves to caution physicians against labeling breathlessness in every toddler as asthma. It emphasizes the importance of searching for tell-tale signs such as clubbing and extrapulmonary clues which point to a systemic disease such as lysosomal storage disorders as a primary etiology of chronic respiratory symptoms.

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Childhood sarcoidosis: Louisiana experience

Cited by 71 publications

References 18 publications

Common variable immunodeficiency presenting as sarcoidosis in a 9‐year‐old child

Common variable immunodeficiency presenting as sarcoidosis in a 9‐year‐old child

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

Rare disease heralded by pulmonary manifestations

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