Clinical and genetic characteristics of eleven neonates with chronic granulomatous disease / 中国新生儿科杂志

Objective:To study the clinical characteristics, diagnostic methods and genotypes of neonatal chronic granulomatous disease(CGD).Methods:From April 2013 to August 2020, neonates admitted to our hospital, diagnosed with neonatal CGD and confirmed using neutrophil respiratory burst test and genetic testing were retrospectively studied. Their clinical characteristics and diagnostic methods were summarized.Results:A total of eleven neonates with CGD were enrolled, including ten males and one female. The age of onset was 3-23 d and the age of admission was 11-28 d. 3 cases had family history. The initial symptoms were fever (10 cases) and coughing (1 case). The accompanying symptoms included coughing (6 cases), dyspnea (4 cases), skin pustules (3 cases), fever (1 case) and diarrhea (1 case). Lung CT showed patchy shadows (6 cases), pulmonary nodules (3 cases), round and irregular high-density shadow (1 case), pulmonary consolidation (1 case), pleural effusion (1 case) and pleural thickening (2 cases). CGD was pathologically diagnosed in one patient. Sputum culture showed Candida albicans (3 cases), Aspergillus fumigatum (2 cases), Aspergillus fumigatum combined with Klebsiella pneumoniae and Escherichia coli (1 case), Aspergillus fumigatum combined with Staphylococcus aureus (1 case). GM tests were positive in two cases and negative in other two cases. Blood and cerebrospinal fluid cultures were negative. White blood cell counts were (10.0-44.0)×10 9/L and C-reactive proteins were (14-165) mg/L. 11 cases had positive neutrophil respiratory burst test. Genetic tests showed CYBB gene mutations (9 cases) , NCF1 gene mutation(1 case) and NCF2 gene mutation (1 case). All cases received antibacterial and antifungal treatments for 2-5 weeks and were discharged with improvement. 8 patients survived, 5 received hematopoietic stem cell transplantation, 4 succeeded and one failed and continued to survive on oral medication. 3 cases took sulfamethoxazole, voriconazole or itraconazole orally for long periods. 3 cases died of severe infections after withdrawal of medication. Conclusions:Neonatal CGD is characterized by lung infections. Pulmonary CT shows mostly nodular or patchy shadows with occasional pulmonary consolidation or pleural effusion. It can be diagnosed by neutrophil respiratory burst test and genetic testing. X-linked CYBB gene mutations are common and autosomal recessive NCF1/NCF2 gene mutations less common.

A lesion on lip – Hemangioma with Chronic Granuloma.

Infections as well as tumours and tumour-like conditions are common in the oral cavity. While hemangiomas are benign vascular tumours which may be encountered in any part of the body, granulomatous infections are unusual in the mouth. We discuss below the rare occurrence of a hemangioma on the lip which was associated with a chronic granuloma.

Haga su diagnóstico / Do your diagnostic

Presentamos el caso de una adolescente amerindia, con esta enfermedad caracterizada por una pequeña tumoración cutánea en el pie, de curso crónico e indoloro sin afectación interna. Niega antecedentes de importancia, sin embargo, es probable que existiera un traumatismo previo. El diagnóstico y tratamiento se realizaron favorablemente con el estudio histopatológico, el cultivo del material obtenido y extirpación completa de la lesión, sin recurrencia.

An Amerindian young female with this unusual disease characterized for a small skin tumour on the left foot, asymptomatic and chronic with any internal involvement was seen in our hospital. We believe in a previous physical trauma in this corporal site, but she denies any important background. Diagnosis and favourable treatment was obtained through pathological study, culture of the lesion and complete excision, without any relapse.

Rhinoscleroma Mimicking Malignancy.

Rhinoscleroma is an uncommon chronic granulomatous disease of the upper airways affecting nasal cavity, nasopharynx, larynx, trachea, and bronchi. The oral cavity, para nasal sinuses, and soft tissues of the lips and nose can be affected. In rare cases, rhinoscleroma spreads to the orbit. We present a case that was being evaluated for bilateral neck nodal mass, was confused with malignancy and subsequently, on thorough clinicopathological evaluation, was diagnosed as rhinoscleroma. This case underlines the importance of thorough clinical evaluation and diagnostic workup before instituting any sort of treatment in oncology.