OBJECTIVE: To explore the clinical feature, diagnosis and phenotype of Majeed syndrome. METHODS: Clinical manifestation, diagnostic process, imaging feature and genetic testing of an ethnic Han Chinese patient with Majeed syndrome were reviewed. RESULTS: The patient, a 3-year-9-month-old boy, had featured psychomotor retardation and developed bone pain from 8 month on. The child had tenderness of the lower limbs and presented with repeatedly joint swelling and pain accompanied by fever. Physical signs included limb muscle weakening, slightly decreased muscle tone, reduced muscle volume and positive Gower sign. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the LPIN2 gene, including c.1966A>G and c.2534delG. MRI showed multiple lesions in bilateral knee joints and distal middle tibia presenting as patchy SPAIR high signals with unclear edge, in addition with edema of soft tissue surrounding the right distal femur. CONCLUSION Majeed syndrome is characterized by chronic and recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and growth retardation. Surrounding muscle tissue of osteomyelitis may also be involved. The syndrome may also affect the central nervous system, resulting in delayed language and motor development. Discovery of multiple pathological variants of the LPIN2 gene suggested that the clinical phenotype of this syndrome may vary between patients to some extent.
Anemia, Dyserythropoietic, Congenital/genetics* ; Child ; Genetic Testing ; Humans ; Immunologic Deficiency Syndromes/genetics* ; Infant ; Male ; Osteomyelitis/genetics*

The bacilli Calmette-Guerin (BCG) Tokyo-172 strain was considered to exhibit good protective efficacy with a low rate of unfavorable side effects. However, we describe a rare case of BCG osteomyelitis developed in an immunocompetent host who was given with BCG Tokyo-172 vaccine on the left upper arm by multipuncture method. A 9-month-old girl presented with progressive inability to move her right elbow and had radiographic evidence of septic elbow combined with osteomyelitis of right distal humerus. A biopsy from the site revealed chronic caseating granulomatous inflammation, positive for BCG Tokyo-172 strain on the multiplex polymerase chain reaction. The child had to undergo second surgical debridements and oral antituberculosis chemotherapy. There were no sequelae after 2 yr of follow-up. This complication, although uncommon, should be considered in the appropriate clinical setting.
Antitubercular Agents/therapeutic use ; BCG Vaccine/*adverse effects ; DNA, Bacterial/genetics ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Multiplex Polymerase Chain Reaction ; Mycobacterium bovis/genetics/*isolation & purification ; Osteomyelitis/drug therapy/*etiology/*microbiology/surgery

Mycobacterium longobardum is a slow-growing, nontuberculous mycobacterium that was first characterized from the M. terrae complex in 2012. We report a case of M. longobardum induced chronic osteomyelitis. A 71-yr-old man presented with inflammation in the left elbow and he underwent a surgery under the suspicion of tuberculous osteomyelitis. The pathologic tissue culture grew M. longobardum which was identified by analysis of the 65-kDa heat shock protein and full-length 16S rRNA genes. The patient was cured with the medication of clarithromycin and ethambutol without further complications. To the best of our knowledge, this is the first report of a M. longobardum infection worldwide.
Aged ; Anti-Bacterial Agents/therapeutic use ; Bacterial Proteins/genetics ; Chaperonin 60/genetics ; Clarithromycin/therapeutic use ; Elbow/pathology ; Ethambutol/therapeutic use ; Humans ; Male ; Mycobacterium Infections, Nontuberculous/*microbiology ; Nontuberculous Mycobacteria/classification/genetics/*isolation & purification ; Osteomyelitis/diagnosis/drug therapy/*microbiology/pathology ; RNA, Ribosomal, 16S/genetics ; Treatment Outcome

ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4degrees C. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.
ABO Blood-Group System/genetics ; Acute Disease ; Adolescent ; B-Lymphocytes/cytology/immunology/metabolism ; Bone and Bones/radionuclide imaging ; Genotype ; Humans ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Immunologic Deficiency Syndromes/complications/*diagnosis ; Knee/radionuclide imaging ; Magnetic Resonance Imaging ; Male ; Osteomyelitis/complications/*diagnosis ; Radiopharmaceuticals/diagnostic use

ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4degrees C. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.
ABO Blood-Group System/genetics ; Acute Disease ; Adolescent ; B-Lymphocytes/cytology/immunology/metabolism ; Bone and Bones/radionuclide imaging ; Genotype ; Humans ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Immunologic Deficiency Syndromes/complications/*diagnosis ; Knee/radionuclide imaging ; Magnetic Resonance Imaging ; Male ; Osteomyelitis/complications/*diagnosis ; Radiopharmaceuticals/diagnostic use