Hastingsbeebe5940

Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding the nucleotide-binding domain of the nucleotide-binding oligomerization domain-containing 2 gene. PARP inhibitor Blau syndrome and early-onset sarcoidosis are familial and sporadic forms of the same disease and are very rare. Many organ systems may be involved; however, neurologic involvement is infrequent. We reported a case of encephalitis in a 12-year-old girl followed with a diagnosis of early-onset sarcoidosis.

The patient was diagnosed with juvenile idiopathic arthritis at 3 years of age. We considered druginduced sarcoidosis at 6 years of age with granulomatous inflammation of liver and kidney. Small joint involvement and camptodactyly developed during follow-up. M315T mutation was detected in the NOD2 gene supporting the diagnosis of early-onset sarcoidosis. The patient suffered from encephalopathy when she was under methotrexate, infliximab, and systemic steroid treatment at 12 years of age. Cerebrospinal fluid limbic encephalitis antibody panel was negative.

Encephalopathy is not common in Blau syndrome and early-onset sarcoidosis. The cause of encephalopathy in our patient was interpreted as autoimmune encephalitis.

Encephalopathy is not common in Blau syndrome and early-onset sarcoidosis. The cause of encephalopathy in our patient was interpreted as autoimmune encephalitis.

Levamisole is an imidazole derivative used in the treatment of various cancers, dermatological diseases, and parasitosis. Illegal use of levamisole by mixing it with cocaine in order to increase the psychotropic effects has also increased in recent years. Leukoencephalopathy is one of levamisole`s most prominent neurological side effects.

Here we present the clinical, laboratory, imaging findings, treatment, and follow-up information of a 12-year-old girl who presented with seizures due to levamisole, which was prescribed to treat vitiligo.

Levamisole-induced leukoencephalopathy should be considered in the differential diagnosis of demyelinating diseases, the neurotoxic effects of the drug should be well understood, and treatment should be initiated as soon as possible.

Levamisole-induced leukoencephalopathy should be considered in the differential diagnosis of demyelinating diseases, the neurotoxic effects of the drug should be well understood, and treatment should be initiated as soon as possible.

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes.

An 11-year-old-boy presented with respiratory insufficiency and a rapidly progressive muscle weakness. He was the fifth child of a consanguineous marriage with a medical history of hearing loss. He was peripherally week with a reduced muscle tone. Upper extremity muscles were effected more than lower limbs. He deteriorated rapidly and became quadriplegic. Brain magnetic resonance imaging and magnetic resonance spectroscopy were normal. Echocardiography revealed left ventricular non-compaction. A homozygous c.1088C > T (p.363L) missense mutation was identified in SLC52A2 gene. Significant clinical improvement was seen with high dose riboflavin.

This is the first reported BVVLS case presented with left ventricle-non compaction which may be caused by a secondary respiratory chain deficiency. Riboflavin transporter deficiencies should be considered in the differential diagnosis of mitochondrial disorders and secondary respiratory chain deficiencies should be thought during the follow-up of BVVLS.

This is the first reported BVVLS case presented with left ventricle-non compaction which may be caused by a secondary respiratory chain deficiency. Riboflavin transporter deficiencies should be considered in the differential diagnosis of mitochondrial disorders and secondary respiratory chain deficiencies should be thought during the follow-up of BVVLS.

The main aim of the study was to assess the association between joint hypermobility (JH) and gastrointestinal (GI) disorders in children.

All children aged 4-17 years attending the clinics of the participating Pediatric Gastroenterology Centres for functional GI disorders (FGIDs) and inflammatory bowel disease (IBD) were screened for joint laxity. JH diagnosis was inferred using the Beighton Score. JHS diagnosis was inferred based on the Brighton Criteria. Rome III Diagnostic Criteria were used to diagnose possible FGIDs. Ulcerative colitis and Crohn`s disease diagnoses were made according to the Porto Criteria. Age and sex- matched healthy children were enrolled as controls.

One-hundred-seventy children with GI disorders (70 with FGIDs, 50 with Crohn`s disease, and 50 with ulcerative colitis) and 100 healthy controls were enrolled in the study. JH was reported in 7/70 (10%) children with FGIDs (p=0.26 compared to controls), 4/50 (8%) children with Crohn`s disease (p=0.21 compared to controls) and 15/50 (30%) children with ulcerative colitis (p=0.09 compared to controls; p=0.01 compared to FGIDs; p=0.01 compared to Crohn`s).

JH is more prevalent in patients suffering from ulcerative colitis compared to the healthy general population, yet the difference did not reach statistical significance. Likely, a proportion of children with ulcerative colitis and JH may show connective tissue abnormalities. However, whether JH can be considered a possible feature of pediatric GI disorders deserves further investigation.

JH is more prevalent in patients suffering from ulcerative colitis compared to the healthy general population, yet the difference did not reach statistical significance. Likely, a proportion of children with ulcerative colitis and JH may show connective tissue abnormalities. However, whether JH can be considered a possible feature of pediatric GI disorders deserves further investigation.

Measurement of the optic nerve sheath diameter (ONSD) with point-of-care ultrasound (POCUS) is a non-invasive and radiation-free technique that can be used to assess increased intracranial pressure (ICP). Ophthalmic artery and central retinal artery Doppler indices can be used like transcranial Doppler to evaluate increased ICP. This study aims to examine the diagnostic value of ONSD measurements and central retinal artery Doppler indices in the evaluation of pediatric patients with increased ICP.

This was a prospective, case-controlled single center study. The study group was comprised of a total of 38 pediatric patients with increased ICP and the control group included 19 healthy children. Ophthalmic ultrasound was performed and ONSD and central retinal artery Doppler indices were measured.

The mean age of the study group was 80.84 ± 65.12 months. The mean ONSD was 5.9 ± 0.8 (3.6-8.1) mm in the study group and the mean resistive index (RI) was 0.71 ± 0.08 (min0,55-max1) and was significantly greater than the control group (p < 0.