Juvenile dermatomyositis in Thai children: Retrospective review of 30 cases from a tertiary care center

Background: Juvenile dermatomyositis is a rare condition, but it is the most common idiopathic inflammatory myopathy in pediatric patients. Aim: To study the clinical manifestations, investigations, treatment, clinical course, and outcomes of juvenile dermatomyositis in Thai children. Method: This retrospective study included juvenile dermatomyositis patients treated at Siriraj Hospital, a 2,300-bed national tertiary referral center in Bangkok, Thailand, from 1994 to 2019. Results: Thirty patients (22 females and 8 males) were included with a female to male ratio of 2.7:1. Median age at diagnosis was 5.1 years (range, 2.6-14.8 years). Median duration of illness before diagnosis was 6.5 months (range, 0.3-84.0 months). Acute and subacute onset occurred in the majority of patients. Presenting symptoms included muscle weakness in 27/30 (90%), skin rash in 26/30 (86.7%), muscle pain in 17/26 (65.4%), and arthralgia in 4/18 (22.2%) of patients. Dermatologic examination revealed Gottron’s rash, heliotrope rash, and periungual telangiectasia in 25/30 (83.3%), 21/30 (70.0%), and 15/24 (62.5%) of patients, respectively. Interestingly, scalp dermatitis was found in 8/21 (38.1%) of patients. The most commonly used treatment regimen in this series was a combination of prednisolone and methotrexate. During the median follow-up of 3.1 years (range, 0.0-18.5 years), only one-third of patients were seen to have monocyclic disease. Extraskeletal osteosarcoma at a previous lesion of calcinosis cutis was observed in one patient at 12 years after juvenile dermatomyositis onset. Limitations: This was a retrospective single-center study, and our results may not be generalizable to other healthcare settings. Prospective multicenter studies are needed to confirm the findings of this study. Conclusion: juvenile dermatomyositis usually poses a diagnostic and therapeutic challenge, which can be compounded by the ethnic variations in the clinical presentation, as observed in this study. Asian patients tend to present with acute or subacute onset of disease, and arthralgia and/or arthritis are less common than in Caucasian patients. Scalp dermatitis is not uncommon in pediatric juvenile dermatomyositis patients. An association between juvenile dermatomyositis and malignancy, though rare, can occur

A novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease.

We evaluated a boy who had multiple Salmonella septicemia, Aspergillus pneumonia and brain abscesses. His nitroblue tetrazolium (NBT) test was reportedly abnormal. The dihydrorhodamine (DHR) flow cytometry assay was compatible with typical X-linked chronic granulomatous disease (X-CGD). CYBB analysis revealed a novel complex mutation atggacg --> ttca in exon 12 (base pairs 1532-1538). As a result, 3 amino acids Tyr 511, Gly 512 and Arg 513 were deleted and replaced by 2 amino acids, Phe and Gln. The DHR and mutation analysis of his mother showed normal DHR pattern and no mutations in exon 12 of CYBB gene. In conclusion, any children with multiple Salmonella and Aspergillus infection should be suspected of CGD. NBT test, DHR assay and gene analysis are helpful toolsto confirm the diagnosis e v en i n the case of de novo mutation.

Epilepsy with continuous spikes and wave during slow sleep: A case report.

This report presents a 5.5-year-old girl who presented with multiple types of seizure disorder along with behavioral change, cognitive deterioration, and language impairment. Electroencephalography showed nearly continuous spike-wave during slow wave sleep. Both clinical and electrographic findings were consistent with epilepsy with continuous spikes and wave during slow sleep (CSWS). Although the seizures were well controlled with conventional antiepileptic drugs, improvement of behavioral, cognitive, and language functions was observed only after adding corticosteroid as an adjunctive treatment. Corticosteriod may have a role in treatment in children with CSWS.

Serotonin syndrome: a case report.

Serotonin syndrome is a rare but potentially fatal complication of drugs that have effects on central nervous system serotonin. It is characterized by sudden onset of altered mental status, increased neuromuscular activity and autonomic instability. The author reports a child with suprasellar region tumor who presented with depression and obsessive-compulsive disorder and received a combination of sertaline (selective serotonin reuptake inhibitor) and clomipramine (tricyclic antidepressant). Symptoms of serotonin syndrome occurred within 24 hours after increasing the dose of sertaline. The patient's symptoms resolved rapidly with discontinuation of the offending drugs and supportive care.

Cryptococcosis in HIV-infected children.

Between January 1994 and December 2001, 21 HIV-infected children were diagnosed as having cryptococcosis. The 8-year point prevalence of cryptococcosis among hospitalized HIV-infected patients was 2.97%. Medical records of 19 patients were available for review. Sixteen patients had cryptococcal meningitis. Of these patients, cryptococcal antigen in the cerebrospinal fluid and sera were positive in all tested samples. India ink preparations were positive in 94% of cases. However, the routine CSF examination was normal in 50% of cases. All patients but one received antifungal treatment. Six patients died during treatment, the others (13 patients) were successfully treated. Relapse occurred in 2 patients despite secondary prophylaxis. Two patients died later from other causes and nine were lost to follow-up. We conclude that cryptococcal meningitis was the most common clinical presentation of cryptococcosis among HIV-infected children. HIV-infected children who present with fever, with or without central nervous system signs, should have a lumbar puncture and CSF sent for cryptococcal antigen and culture.