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J Dent Child (Chic) 2020 Sep;87(3):166-170

Dr. Augello is a senior consultant, Clinic of Oral and Cranio-Maxillofacial Surgery, University Hospital Basel, and Cantonal Hospital Aarau, Switzerland;, Email:

Neuroblastoma is a malignant embryonal tumor derived from the neural crest cells of the sympathetic nervous system. Curative therapy is challenging, especially because early-stage diagnosis in toddlers is difficult. Successful treatment of high-risk neuroblastoma is only achieved in approximately half of the cases and requires an immediate interdisciplinary approach. Read More

J Clin Res Pediatr Endocrinol 2021 06 10;13(2):218-224. Epub 2020 Jun 10.

Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Endocrinology and Metabolism, Minnesota, USA

Osteogenesis imperfecta (OI) is characterized by fractures and progressive bone deformities. Fracture rates peak during the toddler and adolescent years and decline during adulthood but do not stop entirely. We describe a kindred, the affected members of which were the mother and two sons, who presented with an apparently unique phenotype of OI. Read More

Lancet Diabetes Endocrinol 2019 02 14;7(2):93-105. Epub 2018 Dec 14.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA.

Background: Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile hypophosphatasia showed 1 year safety and efficacy of asfotase alfa, an enzyme replacement therapy. We aimed to report the long-term outcomes over approximately 7 years of treatment.

Methods: We did a prespecified, end of study, 7 year follow-up of our single-arm, open-label, phase 2 trial in which children aged 3 years or younger with life-threatening perinatal or infantile hypophosphatasia were recruited from ten hospitals (six in the USA, two in the UK, one in Canada, and one in the United Arab Emirates). Read More

JAMA Otolaryngol Head Neck Surg 2017 02;143(2):191-192

Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland5Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.

J Child Neurol 2010 May;25(5):620-2

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

Child neurologists must remain vigilant to the possibility of nonaccidental injury. Just as clinicians have become accustomed to considering potential abuse or neglect in children presenting with a head injury or skeletal trauma, physical abuse must also be considered when children present with lesions at other sites of the neuraxis, as illustrated by this child's brachial plexopathy. Key elements from the history can assist clinicians in differentiating accidental events from nonaccidental injuries secondary to abuse or neglect. Read More

Neural Plast 2005 ;12(2-3):175-82; discussion 263-72

Oslo University College, Health Sciences, Physiotherapy Programme, 0130 Oslo, Norway.

The present paper presents clinical and neurophysiological data of postural behavior in preterm children without CP. Clinical follow-up studies of preterm infants until toddler and school age have reported that low-risk preterm infants may have atypical postural behavior in terms of reduced amount of rotation during crawling, delayed dynamic balance, delayed onset of and a poor quality of early walking behavior. At school age, dysfunctions such as problems in standing on one leg and poor hopping are reported. Read More

Neuromuscul Disord 2003 Dec;13(10):827-9

Department of Child Neurology, Hospital for Children and Adolescents, University of Helsinki, Helsinki University Central Hospital (HUCH), 00029 Helsinki, Finland.

The typical clinical presentation of hereditary neuropathy with liability to pressure palsies is an adult-onset recurrent, painless monoparesis. Electrophysiological abnormalities--decreased nerve conduction velocities and delayed distal latencies--can be detected even in asymptomatic patients. We describe a toddler, who presented with asymmetric toe walking, painful cramps and stiffness in the legs. Read More