Abstract Recent progress in developmental biology, molecular genetics, and neuroimaging has enabled a more profound comprehension of developmental disorders affecting the embryonic midbrain and hindbrain, which manifest clinically. The purpose of this review is to describe anomalies of the midbrain/hindbrain such as pontocerebellar hypoplasia (PCH), congenital disorders of glycosylation (CDG), cerebellar hemisphere hypoplasia. PCH is a group of disorders that is both clinically and genetically diverse. These disorders are identified by the hypoplasia and degeneration of the cerebellum and ventral pons. A total of 18 distinct clinical subtypes of PCH, each linked to pathogenic variants in 19 different genes, have been documented, like mutations in TSEN54 (coding a subunit of tRNA splicing endonucleases complex) and TBC1D23 which display moderate-to-severe intellectual disability (ID) and microcephaly. CDG represent a set of inherited conditions marked by impaired glycosylation of proteins and lipids. The most prevalent subtype among CDG is PMM2-CDG, inherited in a recessive manner, causing reduced activity of phosphomannomutase. Its phenotype varies from mild to severe, involving the central nervous system and affecting many other organs as well. Patients who are severely affected also exhibit visceral symptoms alongside severe ID and other neurological manifestations. Cerebellar hypoplasia (CH) is characterized by a cerebellum of diminished volume while maintaining its shape. CH exhibits a diverse range of neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental involvement. Cerebello–oculo–facio–genital syndrome is linked to a recessive MAB21L1 mutation. Jubert's syndrome, associated with a rare autosomal recessive mutation, is identified on magnetic resonance imaging by cerebellar worm hypoplasia and midbrain malformations. The rhombencephalosynapsis, characterized by vermian agenesis or hypogenesis with the fusion of the cerebellar hemispheres, emerges during embryogenesis. It can manifest alone or in conjunction with other and/or extracerebral abnormalities.

Cerebellar hypoplasia (non-human)

Hindbrain

Right hemisphere

Cerebellar hemisphere

10.1055/s-0044-1786782

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Evaluation of the basal ganglia in neurofibromatosis type 1

Child s Nervous System (2013)

Francesco Nicita C. Di Biasi Saadi Sollaku Stefano Cecchini Vincenzo Salpietro

Region of interest

Choline

Creatine

10.1007/s00381-013-2236-z

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Citations (15)

Autoimmune encephalitis and CSF anti-AMPA GluR3 antibodies in childhood: a case report and literature review

Neurological Sciences (2022)

Maria Elena Cucuzza Piero Pavone Angela D’Ambra Maria Carla Finocchiaro Filippo Greco

Neuroradiology

Autoimmune encephalitis

10.1007/s10072-022-06170-0

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Citations (7)

Reliability of Continuous Glucose Monitoring in the Management of Paediatric Dumping Syndrome: A Mini Systematic Review and Our NICU Case Report

Acta Scientific Paediatrics (2022)

Desirèe Balconara Salvatore Michele Carnazzo Giusi Maria Caltabiano G Cacciaguerra Raffaele Falsaperla

Background:The role of continuous glucose monitoring (CGM) is widely recognized in the management of the diabetic patient, but is not routinely used to detect pediatric dumping syndrome, especially in infants admitted to NICU. Aim:The purpose of this study is review systematically the available literature and point out the usefulness of continuous glucose monitoring in pediatric patients for the early interception of dumping syndrome, follow up and orienting therapeutic strategies, proposing the advantage in terms of reliability and tolerability compared to the heel glucose prick with glucometer and suggesting its application in NICU context. Method:The search is carried on PubMed and Google Scholar database by screening all types of studies, with the keywords "continuous glucose monitoring", "CGM", "pediatric dumping syndrome" and these exclusion criteria " diabetes mellitus" "adult dumping syndrome".We examinate all publications obtained from the search strategy and assessed the full text of studies potentially relevant for inclusion.Our search identified 9 eligible articles.Moreover, we report our case about a newborn affected by a congenital myasthenic syndrome presenting dumping syndrome. Results:All the studies cited show the reliability of CGM in detecting glycemic fluctuations, compared to single and intermittent glucose samplings.Glycemic trends helped to adopt the best therapeutic strategy on a case-by-case basis. Conclusions:Our paper strengthens the evidence on the usefulness of CGM in pediatric dumping syndrome, considering the outcomes reached in all 17 patients studied, in term of safety, reliability, non-invasiveness.Furthermore it suggests the potential future diffusion of this technology that is still little used routinely in NICU departments.

Dumping

Dumping syndrome

10.31080/aspe.2022.05.551

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Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant

Molecular Diagnosis & Therapy (2024)

Raffaele Falsaperla Vincenzo Sortino Simona Domenica Marino Ausilia Desiree Collotta Carmela Gammeri

Tetrabenazine

10.1007/s40291-024-00706-0

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Isolated ictal apnea in neonatal age: Clinical features and treatment options. A systematic review

Autonomic Neuroscience (2022)

Raffaele Falsaperla Maria Chiara Consentino Giovanna Vitaliti Silvia Marino Martino Ruggieri

Neonatal seizure

Levetiracetam

Etiology

10.1016/j.autneu.2022.103034

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Citations (4)

Sturge-Weber Syndrome

I Pascual-Castroviejo Orhan Konez Concezio Di Rocco Martino Ruggieri

Sturge-Weber syndrome (SWS) (OMIM # 185300), also known as encephalofacial or encephalotrigeminal angiomatosis or meningofacial angiomatosis, is a (usually) sporadic congenital neurocutaneous disorder affecting the cephalic venous microvasculature. The hallmark anomaly is a capillary malformation affecting: (a) the brain and meninges with or without involvement of (b) the choroid and/or episclera or conjunctive and (c) the skin (the latter typically in the cranial nerve V1-V3 territory including the mouth, pharynx and nasal mucosa or elsewhere in the body) (, , , ). Many incomplete forms, lacking one or more features of this triad exist (). Other clinical features associated with SWS are seizures, glaucoma, headache, transient stroke-like neurological deficits, and behavioural problems. Hemiparesis, hemiatrophy, and hemianopia may occur contralaterally to the cortical abnormality ().

Sturge–Weber syndrome

Hemiparesis

Abnormality

Meninges

Angiomatosis

10.1007/978-3-211-69500-5_10

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Citations (2)

Choroidal abnormalities and mental retardation in neurofibromatosis type 1

The Lancet (2001)

Martino Ruggieri Agata Polizzi

Mentally retarded

10.1016/s0140-6736(05)71757-8

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Citations (11)

Diagnostic controversies in recurrent painful ophthalmoplegic neuropathy: single case report with a systematic review

The Italian Journal of Pediatrics/Italian journal of pediatrics (2022)

Raffaele Falsaperla Santiago Presti Manuela Lo Bianco Stefano Catanzaro Silvia Marino

Abstract Background Ophthalmoplegic migraine, renamed "Recurrent Painful Ophthalmoplegic Neuropathy" (RPON) in 2013 by the International Headache Society is a rare neurologic disorder characterized by recurrent attacks of ophthalmoplegia associated to ipsilateral headache. The etiology is still unknown. Typical magnetic resonance imaging findings show a focal nerve thickening and contrast enhancement. In the majority of cases, there is a full recovery within days or weeks. There is no evidence supporting a specific treatment. The review defines the characteristics of the recurrent painful ophthalmoplegic neuropathy in patients within 2 years of age underlying the importance of the role of magnetic resonance imaging even in presence of the first attack. Thus, an emblematic case report is presented. Case presentation The authors present a case of third cranial nerve paresis in a 17-month-old male child, presenting a neuroradiological pattern highly suggestive of schwannoma, aneurism or recurrent painful ophthalmoplegic neuropathy. Thus, a review of the literature with the pediatric casuistry of recurrent painful ophthalmoplegic neuropathy occurred within 2 years of age focusing on diagnostic considerations is presented. The authors highlight the importance to consider recurrent painful ophthalmoplegic neuropathy in presence of magnetic resonance imaging findings and clinical symptoms referable to aneurysm or schwannoma. Thus, the review defines the characteristics and the neuroradiological findings at the first RPON attack occurred under 2 years of age. Conclusion Although two attacks are necessary, the review strongly suggests to consider recurrent painful ophthalmoplegic neuropathy even at the first attack, in presence of described characteristics and the aforementioned magnetic resonance imaging findings.

10.1186/s13052-022-01274-x

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Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas

Genes Chromosomes and Cancer (1996)

Caterina Carbonara Lucia Longa Enrico Grosso Gianna Mazzucco C Borrone

To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients. Overall, eight angiomyolipomas, eight giant cell astrocytomas, one cortical tuber, and three rhabdomyomas were analyzed. Loss of heterozygosity at either TSC locus was found in a large fraction of the informative patients, both sporadic (7/14) and familial (1/4). Interestingly, a statistically significant preponderance of loss of heterozygosity at TSC2 was observed in the sporadic group (P < 0.01). Among the possible explanations considered, the bias in the selection for TSC patients with the most severe organ impairment seems particularly appealing. According to this view, a TSC2 defect might confer a greater risk for early kidney failure or, possibly, a more rapid growth of a giant cell astrocytoma. None of the seven antioncogenes tested showed loss of heterozygosity, indicating that the loss of either TSC gene product may be sufficient to promote hamartomatous cell growth. Finally, the observation of loss of heterozygosity at different markers in an astrocytoma and in an angiomyolipoma from the same patient might suggest the multifocal origin of the second-hit mutation. Genes Chromosom Cancer 15:18–25 (1996). © 1996 Wiley-Liss, Inc.

TSC2

TSC1

Angiomyolipoma

10.1002/(sici)1098-2264(199601)15:1<18::aid-gcc3>3.0.co;2-7

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Citations (131)