Lytic lesion of skull: a rare presentation of chronic granulomatous disease

2020 ◽  
Vol 13 (9) ◽  
pp. e235423
Author(s):  
Gurinder Kumar
Keyword(s):  
Chronic Granulomatous Disease ◽  
Serratia Marcescens ◽  
Gene Mutation ◽  
Lytic Lesion ◽  
Granulomatous Disease ◽  
Case Scenario ◽  
Rare Presentation ◽  
History Of ◽  
Work Up

An 18-month-old boy presented with lytic lesion of skull and recurrent abscesses with Serratia marcescens. The extensive work up revealed a gene mutation confirming the diagnosis of chronic granulomatous disease (CGD). This case scenario underscores the importance of exploring the possibility of immunodeficiency if there is a history of recurrent abscesses with atypical organism. The case also demonstrates that CGD can present as lytic lesion of skull.

scholarly journals Recurrent Rhinosporidiosis: Coblation Assisted Surgical Resection—A Novel Approach in Management

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Iram Khan ◽  
Shweta Gogia ◽  
Alok Agarwal ◽  
Ajay Swaroop
Keyword(s):  
Chronic Granulomatous Disease ◽  
Surgical Resection ◽  
Upper Airway ◽  
Surgical Excision ◽  
Interesting Case ◽  
Granulomatous Disease ◽  
Male Resident ◽  
Surgical Tool ◽  
Novel Approach ◽  
History Of

Recurrent rhinosporidiosis is a chronic granulomatous disease with a known tendency to reoccur. Coblation EVAC 70 is a novel surgical tool which seems to provide excellent option in management of this notorious disease. We present an interesting case and the innovative approach in its management, using Coblation system.Introduction. Rhinosporidiosis seeberi causes a chronic granulomatous disease of upper airway, usually involving the nose and nasopharynx, and has a notorious tendency to reoccur. The current line of management is surgical excision of the lesion along with cauterization of the base, which does not prevent reoccurrence of the disease.Case Presentation. A 65-year-old male resident of rural India reported a history of breathing difficulty and change in voice. Patient is a Hindu priest by profession, who according to their rituals has to take bath in local pond or river.Conclusion. Rhinosporidiosis is a difficult to treat pathology due to its tendency to reoccur. Till date the management of the disease is far from satisfactory. Coblation system which has already found its roots in otorhinolaryngology can be used as a novel tool in surgical resection of recurrent rhinosporidiosis and has added advantage of low temperature dissection along with clear surgical field due to constant suctioning.

scholarly journals Empty Sella Syndrome with Typical Facies: A Case Report

2021 ◽  
Author(s):  
Megha Mukundan ◽  
Prativa Sethi ◽  
Prasan Kumar Panda
Keyword(s):  
Empty Sella ◽  
Total Testosterone ◽  
Ataxic Gait ◽  
Rare Presentation ◽  
Empty Sella Syndrome ◽  
History Of ◽  
Loss Of Libido ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up

Empty Sella syndrome with typical facies is a rare presentation of panhypopituitarism. Here, authors presented a case of 45-year- old male with a history of altered behaviour such as low mood, passivity, talkativeness with low-hoarse voice and spells of cries for three months. He also had headache, vomiting, abdominal pain, ataxic gait, and loss of libido. He had meningitis 10 years back since then he had multiple similar episodes. He had sparse thinned out hair, male pattern temporal balding, madarosis, brownish pigmentation of face and chest and dry coarse skin. Patient had hypotension but without hypoperfusion. Hormone levels including thyroid hormones, Follicle Stimulating Hormone (FSH), Luteinizing hormone (LH), total testosterone cortisol, and plasma Adrenocorticotropic Hormone (ACTH) were less than normal. Magnetic Resonance Imaging (MRI) brain suggested streak pituitary gland (empty sella). He was supplemented with required hormones. On follow-up, he improved significantly. Trio composite hypothyroidism, hypocortisolism, and hypogonadism have characteristic facies. This unique presentation of patient with blank look facies gives a hint of empty sella, thus leading the clinician to diagnose the disease through timely evaluation and work-up.

scholarly journals Chronic granulomatous disease with an initial presentation of arthritis and oral ulcers

2016 ◽  
Vol 3 (1) ◽  
pp. 35-40
Author(s):  
Mohammad Alsalamah ◽  
Mariam Hanna ◽  
Julia Upton
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Oral Prednisone ◽  
Initial Assessment ◽  
Normocytic Anemia ◽  
Granulomatous Disease ◽  
Oral Ulcers ◽  
Work Up ◽  
Neutrophil Oxidative Burst ◽  
Ncf1 Gene

Chronic granulomatous disease (CGD) is an inherited defect of leukocyte phagocytic function leading to recurrent infections. Autoimmune manifestations are reported in up to 6% of patients with CGD. We report a case of CGD presenting with arthritis as the first manifestation of disease. A 12-year-old Pakistani male of consanguineous parents presented with migratory arthritis and painless oral ulcerations of 6 months duration that were minimally responsive to nonsteroidal anti-inflammatory treatment. Initial assessment demonstrated elevated inflammatory markers (ESR 62), weakly positive ANA (titer 1:40), negative anti-DsDNA, and negative RF. He presented to the emergency department with fevers and arthritis. Repeat work-up suggested early Macrophage Activation Syndrome: normocytic anemia (Hgb 95 g/L), thrombocytopenia (Plt 141 × 109/L), elevated LDH 1603, ferritin 1230 mcg/L, ESR 127, CRP 9.3, hypertiglycerdemia (3.2 mmoL/L) and mild transaminitis (ALT 63, AST 87), normal bone marrow (no hemophagocytosis), but mildly elevated Soluble CD 136 (1086 ng/mL) and Soluble IL-2 receptor (CD25) (1698 U/mL). He was treated with oral prednisone with symptom resolution. The arthritis relapsed after 1 month and the patient developed fever, productive cough, and pleuritic chest pain. Chest imaging revealed multiple nodular opacities and enlarged mediastinal lymph nodes. Aspergillus fumigatus complex was isolated from induced sputum prompting screening for primary immunodeficiency. Neutrophil oxidative burst function, as assessed by a dihydrorhodamine flow cytometry based assay, was low at 1.26 and 1.48 (normal range 32–300). Genetic analysis showed a previously described mutation in the NCF1 gene confirming the diagnosis of autosomal-recessive CGD. CGD can present with an exclusively rheumatologic presentation including arthritis and oral ulceration. Statement of Novelty: This case demonstrates that CGD can present with rheumatological symptoms prior to any infectious features.

scholarly journals Scalp mass: an atypical presentation of multiple myeloma

2020 ◽  
Vol 2020 (10) ◽  
Author(s):  
Benjamin D Tift ◽  
Joshua T Prickett ◽  
Lorenzo K Sampson
Keyword(s):  
Multiple Myeloma ◽  
Lytic Lesion ◽  
Initial Attempt ◽  
Rare Presentation ◽  
Tissue Mass ◽  
Sebaceous Cyst ◽  
Plasma Cell Neoplasm ◽  
History Of ◽  
Benign Mass ◽  
Scalp Mass

Abstract A 64-year-old male with no history of trauma presented to the general surgery clinic with a 6-month history of an asymptomatic left parietal scalp mass. The differential included benign etiologies such as lipoma or sebaceous cyst. At surgery, a hemorrhagic soft tissue mass with underlying defect in the parietal calvarium was noted. The initial attempt at resection was abandoned and neurosurgical consultation was requested. Magnetic resonance imaging demonstrated an enhancing scalp mass with a lytic lesion of the parietal calvarium with no intradural extension. Craniectomy with mass resection and mesh cranioplasty were performed. Pathology confirmed plasma cell neoplasm; serum protein electrophoresis and lytic skull lesions confirmed multiple myeloma. This rare presentation of multiple myeloma serves as a call for providers to maintain a broad differential when evaluating a seemingly benign mass, consider rare etiologies when appropriate and maintain vigilance for abnormal findings during any procedure.

scholarly journals Skin ulcers and disseminated abscesses are characteristic of Serratia marcescens infection in older patients with chronic granulomatous disease

2009 ◽  
Vol 124 (1) ◽  
pp. 164-166 ◽  
Author(s):  
Julia C. Friend ◽  
Dianne M. Hilligoss ◽  
Martha Marquesen ◽  
Jean Ulrick ◽  
Tyra Estwick ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Serratia Marcescens ◽  
Older Patients ◽  
Granulomatous Disease ◽  
Skin Ulcers
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