Recurrent Stroke as a Presenting Feature of Takayasu Arteritis in an Adolescent: A Case Report and Literature Review.

Takayasu arteritis is a large vessel vasculitis, characterized by granulomatous inflammation of arterial vessels, that typically affects the aorta, its main branches and pulmonary arteries. Disease diagnosis is a challenge and requires awareness of the condition, as clinical signs can be not specific. We report a case of an adolescent with recurrent stroke diagnosed with Takayasu arteritis. A diagnosis of Takayasu arteritis was established due to angiographic findings in the magnetic resonance angiography in conjunction with systolic blood pressure discrepancy, arterial hypertension and increased acute phase reactants. Takayasu arteritis is a rare cause of ischemic stroke in children. However, stroke may be the first manifestation of the disease. Clinical experience and multidisciplinary approach, including aggressive treatment, is essential for the favourable outcome of the disease and the reduction of the associated morbidity and mortality.

Neuromuscular diseases and their cardiac manifestations under the spectrum of cardiovascular imaging.

Neuromuscular diseases (NMDs) include a broad spectrum of disorders that affect motor unit in every possible site, extending from the cell body of peripheral nerves to the muscle. The different lesion sites make this group of inherited disorders difficult to diagnose. Many NMDs, especially those involving skeletal muscles, can present significant cardiovascular complications, ranging from rhythm disturbances to the development of dilated or hypertrophic cardiomyopathy. Heart disease represents a major cause of morbidity and mortality among NMD patients, underlining the vital need for further familiarization with the pathogenesis and assessment of cardiac involvement. Cardiovascular imaging is the cornerstone for the evaluation of heart disorders in NMDs, with conventional echocardiography still offering a portable, affordable, and easily accessible solution. Meanwhile, newer echocardiographic techniques such as speckle tracking imaging in combination with cardiac magnetic resonance add new insights into further substrate characterization. The purpose of this review is to offer a brief presentation of the main NMDs and their cardiovascular complications, as well as the presentation of data that highlight the importance of cardiovascular imaging in early diagnosis, monitoring, and prognosis of these patients. Lastly, the authors provide a simple guide about which clinical features, imaging findings, and follow-up plan to adopt in each myopathic disorder.

Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex.

Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterized by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involvement in TSC, including kidney function and blood pressure (BP) levels in children, adolescents and young adults. Non-selected patients with a definite diagnosis of TSC attending the paediatric neurology outpatient department of a tertiary hospital were included in a cross-sectional study. All participants had a renal imaging study within 6 months of ambulatory blood pressure (BP) and glomerular filtration rate (GFR) assessment. Data on demographics, history, genotype, kidney function at diagnosis and last imaging were collected. Twenty patients were enrolled in this study with a median age of 15 years (IQR range 9 to 18). About 23.5% of the participants had ambulatory hypertension. Systolic BP levels correlated significantly with GFRDTPA values despite the absence of hyperfiltration. Patients that developed hypertension and possibly those with angiomyolipoma or cysts had higher GFR levels in childhood and adolescence. All the patients with ambulatory hypertension had angiomyolipoma or cysts on renal imaging studies. CONCLUSIONS: Hypertension may present with increased frequency in young patients with kidney disease associated with TSC. Routine ambulatory BP measurement should be part of the annual clinical assessment in patients with TSC. WHAT IS KNOWN: • Nearly half of the patients with TSC have a premature decline in their renal function in their fifth decade of life. • Hypertension and hyperfiltration have been proposed as modifiable factors of progression of renal decline in patients with TSC-related renal disease. WHAT IS NEW: • Hypertension is prevalent in youth with tuberous sclerosis complex. • SBP levels have a positive relation with GFR levels within the normal range of GFRDTPA values.

The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.

BACKGROUND: The neurodevelopmental impairment in tuberous sclerosis complex (TSC) has a multifactorial origin. Various factors have been proposed as predictors of neurological outcome such as tuber load, seizure onset, and TSC2 mutation. Cerebellar lesions have been associated with worse neuroradiological phenotype, but their contribution is not well understood. METHODS: A partly retrospective and partly prospective pediatric cohort study was conducted at three hospitals in Greece between 2015 and 2020. Patients aged ≤ 18 years with a confirmed TSC daignosis were included and underwent brain imaging, a semistructured interview (authorized Greek version of the tuberous sclerosis-associated neuropsychiatric disorders, or TAND, checklist), and intellectual ability assessment. RESULTS: The study populations consisted of 45 patients with TSC (22 females, 23 males; mean age 9.53 years). Twenty patients (44.4%) had cerebellar lesions. Cerebellar involvement was the most powerful predictor of tuber load (P = 0.03). Cerebellar lesions were associated with giant cell astrocytomas (SEGAs) (P = 0.01) and severe neurological outcome (P = 0.01). Even though in the univariate analysis early seizure onset, tuber load, and cerebellar involvement were associated with intellectual impairment and neurological severity, none of them was an independent predictor of cognitive outcome and neurological severity. CONCLUSIONS: Cerebellar lesions are common among individuals with TSC. Cerebellar involvement correlates with supratentorial derangement and the development of SEGAs, which is suggestive of a more severe clinical and neuroradiological phenotype. Cerebellar involvement and early seizure onset were not independent predictors of either neurological severity or intellectual disability or neurobehavioral outcome; their role in TSC clinical phenotype should be further investigated.

Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited disorder caused by mutations in HPRT1 gene resulting in deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by hyperuricemia and a spectrum of neurological and behavioral manifestations. We describe a rare case of a 14-month-old boy presenting with acute renal failure and hyperuricemia. The patient exhibited all features of LNS apart from self-injurious behavior. The enzymatic analysis demonstrated total inactivity of the HPRT, and the molecular analysis revealed a splice-site mutation in intron 3 leading to exon 4 exclusion. This splice-site mutation has been previously reported only twice.

Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.

Hemimegalencephaly is a rare malformation of cortical development characterised by enlargement of one cerebral hemisphere. The association between hemimegalencephaly and tuberous sclerosis complex, an autosomal dominant genetic disorder, is uncommon and has so far been reported only in a few cases. Intractable epilepsy and severe developmental delay are typical clinical manifestations. Aberrant activation of the mTOR signalling pathway is considered to be the hallmark of the pathogenesis of these two disorders. Thus, mTOR inhibitors such as everolimus represent a promising therapeutic approach to mTOR-associated manifestations. We present a thorough literature review of the association between hemimegaloencephaly and tuberous sclerosis complex.

Premonitory Urges and Their Link With Tic Severity in Children and Adolescents With Tic Disorders.

Tics wax and wane regarding their severity, while their expression is affected by non-motor sensory or cognitive elements that are mostly known as "premonitory urges." Since premonitory urges are often used in non-pharmacological interventions to decrease tic severity, it is of interest in the present study to examine whether premonitory urges can actually predict tic severity. Fifty-two children and adolescents diagnosed with tics and Tourette syndrome (29 children with provisional tic disorder, 16 children with chronic motor tic disorder, and 7 children with Tourette syndrome) were included in the study. Their age ranged between 6 and 15.7 years (mean age 9 years and 2 months). All participants completed the YGTSS (Yale Global Tic Severity Scale) in order to assess tic severity and the Premonitory Urge for Tics Scale (PUTS) to measure premonitory urges (PU). Regression analysis revealed that PU were present at a higher rate in older subjects (>12 years of age) than in younger children and with a higher level of tic severity. Although the presence of PU was associated with tic severity across the entire age range, there was a stronger association between PU and tic severity in older children. A better insight into the pathophysiology of premonitory urges could possibly lead to the identification of new therapeutic modalities targeting the sensory initiators of tics in future research.

Clinical and laboratory data in a sample of Greek children with autism spectrum disorders.

The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5-9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population.