26 research outputs found
CASO CLINICO: SINDROME DA MICRODELEZIONE 16p11.2 PROSSIMALE
No full textIPOTESI DIAGNOSTICHE E INDAGINI DI I E II LIVELLO Sono stati eseguiti: esami ematici che mostravano TSH ed FT4 normali, cortisolemia ai limiti inferiori con funzionalità
surrenalica normale, assetto prepubere ed iniziale resistenza insulinica all’OGTT (glicemia/insulina 4.06, HOMA index 4.10); ecografi a addome (steatosi); fi broscan (fi brosi modesta); cariotipo (femminile normale).
DIAGNOSI ED EVENTUALE TERAPIA A completamento diagnostico, veniva eseguita analisi microarray che rilevava una delezione di circa 813kb in 16p11.2 arr[hg19] 16p11.2(29,427,215-30,240,227)x1, comprendente la delezione di 593kb responsabile della sindrome da Microdelezione 16p11.2 Prossimale. Tale sindrome, da geni contigui, è caratterizzata da ritardo dello sviluppo e del linguaggio, deficit cognitivo lieve, disabilità sociale (disturbi dello spettro autistico), lievi dismorfismi variabili, anomalie all‘EEG, predisposizione all’obesità, anomalie vertebrali. La microdelezione 16p11.2 (Gruppo 1) spiega tutte le caratteristiche cliniche presentate dalla nostra paziente. La presenza di obesità, in assenza del coinvolgimento del gene riconosciuto come causativo della stessa, fa presupporre che la delezione in questione interessi una regione genica implicata nella predisposizione all’obesità, non ancora descritta in letteratura
Proximal Microdelection 16p11.2 Syndrome
No full textClinical History and Symptoms: XX, 9.37 years, was referred to our Clinic for obesity and psycho-motor delay. Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. Born at term from caesarean section for placental detachment after physiological pregnancy (birth weight g 1900, SGA). In the first years of life she had psychomotor retardation, episodes of affective spasms, nocturnal enuresis, aggression in case of food containment, allergic asthma in steroid therapy, DSA and language disorder (followed by territorial NPI and scholastic support), headache (negative brain MRI, no EEG anomalies, on therapy with Oxcarbazepina), mild right transmission hearing loss. XX was previously submitted to several investigations: Rx rachis (left-convex scoliotic attitude, bilateral cervical rib sketch, antiversion of the physiological lordosis), echocardiography (normal), basic hormonal blood-based were substantially normal. At physical exam height and BMI were at the upper percentiles (83° perc, SDS 0.95, TH-SDS 2.13 and 29.7 kg / m2, respectively). She showed initial signs of pubertal activation (P1-2, S2, A +/-) and several dysmorphic features: synophry, reduced intercantal distance, small mouth, acanthosis at the base of the neck, hump, lower limb valgus, fifth finger clinodactyly of right hand, relevant abdominal adipose panniculus.
Diagnostic Hypothesis and I and Ii Level Investigations: We measured TSH (2,49 mcUI/ml) and FT4 (13,9 pg/ml), cortisolemia at the lower limits (2,3 mcg/dl) with normal adrenal function, prepubertal hormonal structure and initial insulin resistance (blood sugar / insulin 4.06, HOMA index 4.10); abdomen ultrasound (steatosis); fibroscan (modest fibrosis); karyotype (normal female). Diagnosis and Eventual Therapy: On the basis of dysmorphic signs microarray analysis was performed that detect a deletion of approximately 813kb in 16p11.2 arr [hg19] 16p11.2 (29.427.215-30.240.227) x1, including the deletion of 593kb responsible for
Proximal Microdelection 16p11.2 syndrome. This syndrome, from contiguous genes, is characterized by delayed development and language, mild cognitive impairment, social disability (autism spectrum disorders), mild variable dysmorphism, EEG abnormalities, predisposition to obesity, vertebral anomalies. Microdeletion 16p11.2 (Group 1) explains all the clinical features presented by our patient. The presence of obesity, in absence of involvement of the gene recognized as causative of the same, suggests that the deletion in question affects a gene region involved in the predisposition to obesity, not yet described in the literature
Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene
No full textTerminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes
for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26
monosomy in a family with microdeletion of 15q26.3 not involving IGF1-R gene
Unforgettable cases in pediatric general practice: HyperCPKemia (high creatine phosphokinase blood levels), not just myopathy [IperCPKemia, non solo miopatie]
No full textn.a
Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report
No full textSitosterolemia shares clinical and biochemical features with homozygous familial hypercholesterolemia. Nevertheless, it is impressively responsive
to cholesterol-lowering diet. In our report, we demonstrate a rapid reduction of severe hypercholesterolemia in response to dietary
restriction in a young patient leading to the diagnosis of this rare disease. Early identification and treatment may prevent premature atherosclerosis
SHORT STATURE HOMEOBOX-CONTAINING GENE AND IDIOPATHIC SHORT STATURE
No full textThe term idiopathic short stature (ISS) refers to patients who are short due to various unknown reasons. Although it is clear that multiple factors contribute to final height, genetic factors play a crucial role. Mutations of a human homeobox gene, short stature homeobox-containing (SHOX) gene, have been shown to be associated with the short stature phenotype in patients with Turner syndrome, most patients with Leri-Weill dyschondrosteosis and some cases of ISS. The prevalence of SHOX anomalies in subjects previously recognized as having ISS has been estimated at 2.4% in a large series of ISS individuals. This review focuses on the functional properties of the SHOX gene and its linkage to ISS
