Sarcoidosis beyond pulmonary involvement: A case series of unusual presentations

• Published in: Respiratory medicine case reports Vol. 34; p. 101495
• Main Authors: Medhat, Basma M., Behiry, Mervat E., Fateen, Mohamed, El-Ghobashy, Nehal, Fouda, Raghda, Embaby, Aya, Seif, Esraa M., Taha, Marwa Magdy, Hasswa, Mohammed Kamal, Sobhy, Dina, Ragheb, Christina Samir, Morad, Mohamed Abdelkader
• Format: Journal Article
• Language: English
• Published: Elsevier Ltd 01.01.2021; Elsevier
• Subjects: Case Report; Emperipolesis; Juvenile; Myelofibrosis; Neurosarcoidosis; Renal involvement; Sarcoidosis; Juvenile; Myelofibrosis; Renal involvement; Sarcoidosis; Neurosarcoidosis; Emperipolesis
• ISSN: 2213-0071; 2213-0071
• DOI: 10.1016/j.rmcr.2021.101495

Unusual presentations of sarcoidosis pose a diagnostic challenge and warrant attention. Hematologic associations: Case 1 (37-years-old male): Pancytopenia: myelofibrosis (leading to sepsis and mortality) following a two-year quiescent course of biopsy-proven-sarcoidosis. Case 2: (38-years-old male): Presentation with thrombocytopenia (5 × 103/cmm): immune thrombocytopenic purpura (histologically associated with megakaryocytic emperipolesis). Biopsied enlarged lymph nodes demonstrated sarcoidosis. Hematologic sarcoid involvement is usually due to granulomatous bone marrow (3.9%) or splenic infiltration (6–30%); however, the presented manifestations are scarcely reported with a potential significance that is yet to be elucidated. Case 3: Neurologic presentation: 48-years-old female: presentation with bilateral sensorineural hearing loss and facial palsy. Brain magnetic resonance imaging showed leptomeningeal thickening. Biopsied enlarged lymph nodes showed sarcoidosis. Case 4: Neurologic and renal manifestations: 13-years-old male (family history of sarcoidosis): Presenting with acute headache, investigations showed elevated serum creatinine (2.1 mg/dL) and angiotensin converting enzyme, and computed tomography chest and abdominal findings characteristic of sarcoidosis. Associated benign increased intracranial and acute tubulointerstitial nephritis (with eosinophils) were diagnosed upon concordant workup. Of sarcoidosis neurologic affection (5–10%), cranial nerve(s) involvement is among the most common (25–50% of neurosarcoid affection), particularly that of the facial nerve (Case 3). Leptomeningeal enhancement is among the most common neurosarcoid radiologic findings (30–40%). Whereas benign increased intracranial tension (Case 4) is much less reported. Among sarcoidosis renal involvement (35–50%), interstitial nephritis usually presents with granulomatous renal lesions, yet its sole association with sarcoidosis is unusual (Case 4). The portrayed atypical hematologic, neurologic, and renal manifestations further emphasize the masquerading nature of sarcoidosis. •Although hematologic involvement in sarcoidosis is usually due to granulomatous infiltration of the bone marrow or spleen and/or hypersplenism, associations with hematologic neoplasms or myelodysplastic syndromes have been reported. However, coexisting myelofibrosis (presented in our first patient) is much less reported and raises interest.•We present a patient with coexistent with ITP (case 2) that was further histologically associated with megakaryocytic emperipolesis. The significance of this association is yet to be elucidated.•Cranial nerve(s) involvement is among the most widely neurosarcoid manifestations reported which was demonstrated in our third patient. Brain MRI showing evidence of leptomeningeal enhancement which is among the most common radiologic findings of neurosarcoidosis.•A juvenile-onset patient with a family history of sarcoidosis manifested with benign increased intracranial tension (ICT) and renal affection in the form of tubulointerstitial nephritis. Unlike cranial nerve affection, benign ICT is a rarely reported neurosarcoid manifestation, and renal involvement is usually due to hypercalcemia or granulomatous involvement with or without tubulointerstitial nephritis.•Although unusual presentations warrant attention as the pose a diagnostic and therapeutic challenge, they should be prudently interpreted.