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2.
Pediatr Res ; 86(5): 603-607, 2019 11.
Article in English | MEDLINE | ID: mdl-31288248

ABSTRACT

BACKGROUND: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Genetically, ICH was linked with heterozygosity for an R836C mutation in the COL1A1 gene. Although an autosomal-recessive trait is also suspected, it has not been proven thus far. METHODS: A case of an infant male born to consanguineous parents is reported, presenting with classical findings, course, and clinical outcome of ICH. Whole-exome sequencing (WES) was performed in order to identify a possible underlying genetic defect. RESULTS: WES analysis revealed a novel homozygous nonsense mutation in lysine 2 of fetuin-A, encoded by the ALPHA-2-HS-GLYCOPROTEIN (AHSG) gene (c.A4T; p.K2X). Fetuin-A is an important regulator of bone remodeling and an inhibitor of ectopic mineralization. By enzyme-linked immunosorbent assay (ELISA), we show a complete deficiency of this protein in the patient's serum, compared to controls. CONCLUSION: A novel homozygous nonsense mutation in AHSG gene has been found in ICH patient with a typical phenotype, resulting in fetuin-A deficiency. This finding postulates an autosomal-recessive mode of inheritance in ICH, which, unlike the autosomal-dominant inheritance associated with COL1A1, is associated with AHSG and fetuin-A deficiency.


Subject(s)
Deficiency Diseases/complications , Hyperostosis, Cortical, Congenital/complications , alpha-2-HS-Glycoprotein/deficiency , Humans , Hyperostosis, Cortical, Congenital/genetics , Infant , Male , Exome Sequencing , alpha-2-HS-Glycoprotein/genetics
3.
Brain ; 142(6): 1528-1534, 2019 06 01.
Article in English | MEDLINE | ID: mdl-31009037

ABSTRACT

Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities. Upon whole exome sequencing, we identified a homozygous mutation (c.1861C>T;p.Q621*) in the aryl hydrocarbon receptor (AHR) gene that perfectly co-segregated with the disease in the larger family. AHR is a ligand-activated transcription factor that has been intensively studied in xenobiotic-induced toxicity. Further, it has been shown to play a physiological role under normal cellular conditions, such as in immunity, inflammatory response and neurogenesis. Notably, knockout of the Ahr gene in mouse impairs optic nerve myelin sheath formation and results in oculomotor deficits sharing many features with our patients: the eye movement disorder in Ahr-/- mice appears early in development and presents as conjugate horizontal pendular nystagmus. We therefore propose AHR to be a novel disease gene for a new, recessively inherited disorder in humans, characterized by infantile nystagmus and foveal hypoplasia.


Subject(s)
Basic Helix-Loop-Helix Transcription Factors/genetics , Homozygote , Nystagmus, Congenital/genetics , Optic Nerve Hypoplasia/genetics , Receptors, Aryl Hydrocarbon/genetics , Animals , Child , Electroretinography/methods , Female , Humans , Male , Mice , Mutation/genetics , Nervous System Malformations/genetics , Nervous System Malformations/pathology , Nystagmus, Congenital/diagnosis , Optic Nerve Hypoplasia/pathology , Pedigree
4.
Case Rep Pediatr ; 2016: 1024054, 2016.
Article in English | MEDLINE | ID: mdl-27774332

ABSTRACT

Infective endocarditis is a rare condition in children with normal hearts. We present here a case of previously healthy eleven-year-old girl with infective endocarditis and pulmonary septic emboli caused by a very rare bacterial etiology (Lactococcus lactis). Identification of this pathogen was only made by polymerase chain reaction.

5.
J Child Neurol ; 23(3): 344-8, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18230840

ABSTRACT

A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse of herpes simplex virus encephalitis in the last 15 years are reviewed, with emphasis on clinical characteristics and possible mechanisms.


Subject(s)
Encephalitis, Herpes Simplex , Herpes Simplex , Herpesvirus 1, Human/pathogenicity , Virus Activation , Virus Latency , Acyclovir/therapeutic use , Antiviral Agents/therapeutic use , Child , Fatal Outcome , Herpesvirus 1, Human/physiology , Humans , Infant , Male , Recurrence
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