Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.

BICD2 (BICD Cargo Adaptor 2, MIM*609797) mutations are associated with severe prenatal-onset forms of spinal muscular atrophy, lower extremity-predominant 2B (SMALED2B MIM 618291) or milder forms with childhood-onset (SMALED2A MIM 615290). Etiopathogenesis is not fully clarified and a wide spectrum of phenotypic presentations is reported, ranging from extreme prenatal forms with adverse outcome, to slow progressive late-onset forms. We report a fetus at 22 gestational weeks with evidence of Arthrogryposis Multiplex Congenita on ultrasound, presenting with fixed extended lower limbs and flexed upper limbs, bilateral clubfoot and absent fetal movements.

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.

Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) is a rare autosomal recessive neuromuscular disorder characterized by arthrogryposis multiplex congenita and prenatal fractures of the long bones, with poor prognosis. The most affected patients present with biallelic loss-of-function nucleotide variants in ASCC1 gene, coding a subunit of the transcriptional coactivator ASC-1 complex, although the exact pathogenesis is yet unknown. This work describes the first case of SMABF2 in a stillbirth with documented evolution of the disease in the prenatal period.

A Systematic Review of NAFLD-Associated Extrahepatic Disorders in Youths.

Background: There is growing evidence that non-alcoholic fatty liver disease (NAFLD) is a disease affecting not only the liver but also extrahepatic organs.

Aim: To investigate whether in youths NAFLD is associated with extrahepatic complications such as subclinical atherosclerosis, cardiac abnormalities, hypertension, type 2 diabetes, decreased bone mineral density, renal dysfunction, obstructive sleep apnea, and polycystic ovary syndrome.

Methods: We systematically reviewed PubMed; Scopus; Embase; and the Cochrane Library databases up to 28 February 2019 and assessed the quality of studies using the Newcastle-Ottawa Scale.

: a literature review and report of five new cases.

Background: is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (); and (IV) in association with other skin disturbances [e.

Recurrent pyriform sinus fistula successfully treated by endoscopic Glubran 2 sealing: A rare case and literature review.

Objectives: The authors present the case of a 3-year-old girl with a history of complicated surgery for removing a third branchial cleft fistula.

Methods: An endoscopic approach using N-butyl-2-acrylate and metacrilosisolfolane glue (GLUBRAN 2) to seal the fistula was performed.

Results: The clinical and radiological 6-year follow-up confirmed the absence of the fistulous orifice and the persistence of scar due to previous open-neck surgical procedures.

The use of piezosurgery in cranial surgery in children.

Piezosurgery is an alternative surgical technique, now widely tested, that uses ultrasounds for bone cutting. This device uses ultrasounds to section hard tissues without harming surrounding soft tissues. The authors analyzed their experience in craniomaxillofacial procedures with piezosurgery.

Laparoscopic pyloroplasty for idiopathic non-hypertrophic pyloric stenosis in a child.

Acquired gastric outlet obstruction (GOO) during infancy and childhood represents an uncommon event. We describe a 6-year-old boy with GOO who did not respond to medical treatment or to endoscopic pyloric balloon dilatations. The stenosis was successfully treated with laparoscopic pyloroplasty which relieved the obstruction.

Video: argon plasma coagulator in a 2-month-old child with tracheoesophageal fistula.

A 2 month-old boy was admitted to the authors' hospital because of regurgitation and persistent cough during breastfeeding. A chest X-ray examination and a barium esophagogram disclosed small amounts of barium passing in the trachea, suggesting a tracheoesophageal fistula (TEF). Bronchoscopy combined with upper gastrointestinal (GI) endoscopy performed with the patient under general anesthesia confirmed the fistula.

Complex malformation (Ruggieri-Happle) phenotype with "cutis tricolor" in a 10-year-old girl.

The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. It is currently regarded as a twin-spotting phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far: (a) as an isolated skin manifestation; (b) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (c) as a distinct phenotype [cutis tricolor parvimaculata]; (d) in association with other (e.

Incidence and predisposing factors for severe disease in previously healthy term infants experiencing their first episode of bronchiolitis.

Aim: To determine the incidence and predisposing factors for severe bronchiolitis in previously healthy term infants <12 months of age experiencing their first episode of bronchiolitis.

Methods: Epidemiological, clinical and virological data were prospectively collected. Severity was assessed by the need for ventilatory support.

Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome).

Background: The term cutis tricolor describes the combination of congenital hyper- and hypopigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported: (i) as a purely cutaneous trait; (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (iii) as a distinct type [cutis tricolor parvimaculata]; (iv) in association with other (e.g.

Three-dimensional magnetic resonance imaging of Kommerell diverticulum in a child with recurrent dysphagia.

We report a case of a 3-year-old girl with a history of recurrent dysphagia and feeding difficulties. After chest x-ray and esophagogram examination, magnetic resonance imaging revealed the presence of a right-sided aortic arch with an aberrant retroesophageal left subclavian artery arising from a Kommerell diverticulum.

Conservative management of cervicomediastinal chyloma in an infant.

The accumulation of chyle into the mediastinum after surgical intervention is considered an extremely rare event, which has been previously described only in adulthood. We report on a 9-month-old boy who developed a cervicomediastinal chyloma after excision of a large left-sided supraclavicular cystic hygroma. Notwithstanding considerable tracheal deviation, the infant remained asymptomatic and was successfully treated by nonoperative treatment.

Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.

A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed hypoplastic corpus callosum (primarily posterior), subcortical band heterotopia, and diffuse subcortical, periventricular cystic-like lesions. Similar dysmorphic features were observed in the child's mother, but with no imaging abnormalities.

VACTERL association and maternal diabetes: a possible causal relationship?

Background: Some factors(s)/features(s) of maternal insulin-dependent diabetes mellitus are considered common human teratogens. Although the variable association of cardiac, renal, and skeletal anomalies are commonly observed in infants from diabetic mothers, the relationship between VACTERL (i.e.

One-stage excision of massive cervicomediastinal lymphangioma in the newborn.

We report the first neonate successfully treated with one-stage complete excision of massive cervicomediastinal lymphangioma producing alarming respiratory distress. Early postoperative course was complicated by refractory bilateral chylothorax, which effectively responded to insertion of external pleuroperitoneal shunts. At the 6-year follow-up, the child remains symptom free and recurrence free.

Bilateral periventricular nodular heterotopia with amniotic band syndrome.

The amniotic (constriction) band syndrome is characterized by distal ring constrictions, intrauterine amputations, and acrosyndactyly. External constriction by amniotic bands is the generally accepted mechanism: early amniotic rupture leads to formation of mesodermal fibrous strands that constrict, entangle, and amputate distal portions of limbs. Etiology is heterogeneous.

Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype.

A morphological study of the skeletal system in a case of short rib polydactyly syndrome type III (SRPS-III) documented a "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends. This deformity resulted from a 'tandem' change in endochondral bone formation that is, arrested orthotopic cartilage maturation and etherotopic perichondral cartilage differentiation and ossification. At the cartilaginous end, cartilage maturation and vascular invasion were absent.