Severe Hypernatremia as Presentation of Netherton Syndrome

Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for failure to thrive and feeding difficulties. At birth, the infant was admitted to intensive care for severe hypernatremia (natremia 186 mg/dL). Upon entering the ward, the general conditions were poor. He presented with diffuse erythrodermia. A dermatological evaluation showed evidence of “invaginated trichuriasis,” a typical sign of Netherton syndrome. Netherton syndrome is caused by a genetic mutation causing loss of function of the SPINK5 gene it encodes for the LEKTI protein, normally expressed in epithelia. Loss of LEKTI induces severe skin barrier defect. The history of the disease is characterized by serious potential complications in the first months of life, such as the risk of hypernatremic dehydration induced by high skin permeability, recurrent and/or severe infections, and growth retardation

Bickerstaff's brainstem encephalitis (BBE) in childhood: rapid resolution after intravenous immunoglobulins treatment

Three young patients with Bickerstaff's brainstem encephalitis (BBE) are reported. Some weeks following an upper tract infection, the children after a short period of recovery, showed acute onset of symmetric weakness of the lower limbs with difficulty in standing by and walking. The distal muscle weakness had a rapid progression with involvement of the cranial nerve, and then with severe impairment of the consciousness till to coma in one of the three children. BBE is a rare and often underdiagnosed affection in childhood. Common neuro-immune pathogenesis, overlap of clinical signs and strict correlation among BBE with Fisher syndrome and Guillain-Barrè syndrome lead to think that these affections represent an unique spectrum with different central and peripheral involvement. In these children, treatment with intravenous immunoglobulins resulted in a progressive and rapid resolution of the clinical features

Pseudotumor cerebri syndrome (PTCS): clinical analysis on a cohort of 37 pediatric subjects

OBJECTIVE: Pseudotumor Cerebri Syndrome (PTCS) is defined by the whole of signs and symptoms caused by elevated intracranial pressure of unclear etiology in the setting of normal brain parenchyma and cerebrospinal fluid. The diagnostic workup is important to differentiate this disorder from other conditions including brain tumors. The aim of this study is to emphasize the role of clinical signs as well as ophthalmologic evaluation for an accurate diagnosis, and to present a case-series of 37 children affected by this condition. PATIENTS AND METHODS: A retrospective study review has been performed using the medical records of the hospitalized children in the Policlinico-Vittorio Emanuele-G. Rodolico, Pediatric Units of Catania (Italy) from October 2005 to February 2020. The study was conducted ethically in accordance with World Medical Association Declaration of Helsinki and was approved by the Ethic Committee of the University of Catania, Italy (Catania 1 Clinical Registration n 138877/PO). We identified 37 children who were diagnosed with PTCS. In all the subjects, diagnosis Intracranial Idiopathic Hypertension has been verified in accordance to the Friedman 2013 criteria. Subjects with secondary intracranial hypertension have been excluded. RESULTS: A total of 37 subjects were included in this study, with a mean age, at the time of the admission, of 10 ± 3.5 years (range 4-18 years). Among these children, 56.7% were female (21 female/16 male) and almost all were overweight and/or obese (35/37, 94.5%). The most frequent symptoms were headache, vomiting and paralysis of the VI cranial nerve. In 16.2% of the cases, headache was not reported, 8.1% were asymptomatic and 5.4% had not manifested papilledema.  CONCLUSIONS: In this study group, obesity and overweight were the main risk factors of intracranial Idiopathic hypertension, regardless of gender and age of the children. A different gender distribution was observed in the two groups of children based on age and pubertal development: Female gender was a risk factor for children over 10 years old and/or in pubertal stage, while the male gender was predominant in younger and/or prepubertal children. Our data suggest that, even if a minority, there is a number of children that remains under-diagnosed with a greater potential risk of developing long-term complications

Focal neuropathy mimicking focal dystonia in a child: Diagnostic and rehabilitative tools

Object: Focal neuropathy results from an injury of any etiology that occurs in a peripheral nerve. The lesion may be followed by alteration of the sensory sphere (either dysesthesia or paresthesia with or without neuropathic pain), or by compensatory attitudes that are attributable to the altered contraction in muscles that are innervated by the injured nerve. Methods: We describe the case of a 13-year-old boy who attended our hospital for a focal neuropathy of the radial nerve. Conclusion: This neuropathy was revealed after the removal of a plaster Zimmer splint that was applied following a post-traumatic subluxation of the metacarpal-trapezoid joint

Vein of Galen aneurysmal malformation. Different clinical expressiveness. Three case reports

The vein of Galen aneurysmal malformation (VGAM) is a rare cerebro-vascular disorder in neonates. It is characterized by an abnormal direct communication between one or several cerebral arteries and the vein of Galen. It may appear in the neonatal period or afterwards. Three cases of patients affected by VGAM with different clinical expression are presented. Two of them were treated successfully with endovascular embolization. It was not possible to provide the same treatment to the third patient for an intractable congestive heart failure already existing when VGAM was diagnosed