The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report

Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia. Exome sequencing identified a homozygous variant in SLC29A3 (NM_018344.5: c.707C>T [p.T236M]). Our patient did not show the cardinal features of the broad spectrum of SLC29A3-related disorders. She demonstrated remarkable improvement in her clinical and laboratory manifestations after starting interleukin-1 blockade (Anakinra). Recent research suggests that SLC29A3-related disorders are accompanied with autoinflammation and autoimmunity due to an overactive inflammasome pathway, which is most likely induced by mitochondrial and lysosomal dysfunction. Hence, our findings may expand the phenotypic features of the SLC29A3 variant. Patients with the SLC29A3 variant and systemic inflammation may benefit from interleukin-1 blockade as a therapeutic option.

Systemic lupus erythematosus in Arab children differences and similarities with different ethnicities

To describe systemic lupus erythematosus [SLE] features among Arab children, and compare with cohorts from different ethnicities. This retrospective analysis of all published English literature on SLE in Arab children was conducted in March 2013. The percentage and frequencies of the clinical and laboratory features were collected, and compared between different Arab countries as well as Caucasian and South East Asian cohorts. A total of 560 children from 5 Arab cohorts with an average age at diagnosis of 10 years; 7.7% of patients were diagnosed before the age of 5 years. Familial SLE was frequent. Most patients had major organ involvement. Renal involvement was diagnosed in 80%, while neuropsychiatric manifestations were seen in 30%. Immunosuppressive agents were commonly used. Beta cell depletion was recently introduced for refractory cases. The outcome of the disease could not be determined from the available data. However, 145 out of 300 patients had disease damage [52.6% Saudi and 43.9% Egyptian] with mean of 1.3 for Saudi and 0.93 for Egyptian. Forty patients died during the disease course due to infections and severe organ disease. Systemic lupus erythematosus is common in Arab children, particularly familial SLE. The manifestations observed in Arabs are comparable with previous reports. However, there is a noticeable difference in the damage accrual and mortality rate between Arab and Canadian studies, which might reflect the disease severity

Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy

Infantile systemic hyalinosis [ISH] is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and perianal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH

retrospective review of autoinflammatory diseases in Saudi children at a rheumatology clinic

Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children. Restrospective, hospital-based study conducted from January 2010 until June 2010.Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever [FMF]; chronic recurrent multifocal osteomyelitis [CRMO]; early-onset sarcoidosis [EOS]; periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome [PFAPA]; chronic infantile neurologic cutaneous and articular syndrome [CINCA]; and Muckle-Wells syndrome [MWS]. Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients usual medical care. Thirty-four patients [females, 53%] with autoinflammatory diseases were included [mean age, 151 months]. Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra. Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management

Systemic lupus erythematosus following acute lymphocytic Leukemia

Systemic lupus erythematosus [SLE] is a chronic inflammatory disorder of autoimmune origin, characterized by a wide variety of associations and an unpredictable course. The association of SLE and myeloproliferative and lymphoproliferative malignancies is widely reported in the adult literature [1-4]. Most of the data show that the malignancy is detected after the diagnosis and treatment of SLE [4]. However, the development of SLE has been described following treatment of different types of malignancies [5-8]. There is only scarce information available as to the association of both disease conditions in children. We report here a girl with SLE diagnosed 4 years after acute lymphocytic leukemia [ALL] was successfully treated

Sarcoidosis: a delayed or missed diagnosis in children

Sarcoidosis is an idiopathic granulomatous disease, most commonly affecting young adults and presenting with bilateral hilar lymphadenopathy and pulmonary infiltrates [1]. In children it is relatively rare and its clinical spectrum varies according to the age of onset [1-2] It is more common during adolescence and usually presents with clinical features similar to the adult type. In children under the age of 4 years it is rare and has a different presentation. Clinical features are characterized by a triad of rash, uveitis, and arthritis.[3] Sarcoidosis has a worldwide distribution, but is more frequently reported from developed countries.[4,5. To our knowledge, there are no reports of childhood Sarcoidosis from Saudi Arabia. We describe the clinical and laboratory features, treatment and outcome of 8 children with sarcoidosis seen at our hospital

arabic version of childhood health assessment questionaire modified for arabic children

To determine the feasibility, reliability and validity of the childhood health assessment questionnaire - modified for Arab children [CHAQ- MAC]. One hundred and eighteen modified questionnaires were completed by 75 juvenile rheumatoid arthritis [JRA] patients and their parents attending the Pediatric Rheumatology Clinic at the King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia over an 18 month period [January 1996 to May 1997]. The modified questionnaire was self-administered by 82% of the parents. The median time to complete the questionnaire was 10 minutes. The main difficulty in comprehension was discomfort dimension [visual analogue scale [VAS] and morning stiffness]. Test retest reliability was good [r=0.79]. Validity of the CHAQ-MAC was confirmed by the strong correlation between disability index and VAS score [r=0.58]. Functional activities that caused the most difficulties were cross sitting, assuming the prayer position, and using the Arabic style toilet. The modified CHAQ is a suitable assessment tool for Arab children suffering from JRA

Ocular manifestations of systemic lupus erythematosus in children

To determine the prevalence and spectrum of ocular manifestations in children with systemic lupus erythematosus [SLE] and to examine the correlation of the ocular manifestations with disease activity, other organ involvement and the presence of circulating autoantibodies. In this cross-sectional study, we performed at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia from June 2000 to November 2002, a comprehensive evaluation including detailed eye examination, measuring circulating autoantibodies [antinuclear, antiphospholipid antibodies] and calculation of Systemic Lupus Erythematosus Disease Activity Index [SLEDAI]. Fifty-two consecutive children [45 females] with SLE completed the evaluation. The mean age of the patients was 11.3 years and the mean SLEDAI was 9.5. Thirty patients [57.7%] had the disease for more than one year. Eighteen patients [34.6%] had ocular manifestations. Seven patients had abnormal Schirmer s test [2 bilateral, 5 unilateral]. Five patients had [4 unilateral, one bilateral] retinal vascular lesions. One patient had bilateral iridocyclitis. Three patients had unilateral optic neuropathy and 11 patients had visual field defects [4 bilateral, 7 unilateral]. Fisher exact test revealed positive correlation between optic neuropathy and central nervous system [CNS] involvement [p<0.002]. There was no correlation among other variables; probably due to the sample size. Ocular manifestations including sight threatening complications are not rare in children with SLE. Optic neuropathy has strong prediction for CNS lupus

Juvenile rheumatoid arthritis: a clinical approach and npharmacological management

Juvenile Rheumatoid Arthritis is a chronic arthritis of unknown etiology. It remains a diagnosis of exclusion because no specific laboratory test or physical finding is diagnostic. There are 3main subtypes: Pauciarticular, Polyarticular and Systemic in onset. The management of Juvenile Rheumatoid Arthritis requires the expertise of a multidisciplinary team, including Pediatrician, Pediatric Rheumatologist, Ophthalmologist, Orthopedic Surgeon and Rehabilitation personnel. This review will focus on the diagnostic approach and pharmacological management of Juvenile Rheumatoid Arthritis in. The aim of this review is to standardize the treatment of Juvenile Rheumatoid Arthritis in Saudi Arabia