Presentation
Generalized alopecia and microcephaly were also present. [zenodo.org]
Gastrointestinal
- Failure to Thrive
Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy. [zenodo.org]
Eyes
- Visual Impairment
An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and [zenodo.org]
Psychiatrical
- Behavior Disorder
Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. [zenodo.org]
Neurologic
- Seizure
A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. [zenodo.org]
- Convulsions
An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. [zenodo.org]
Workup
Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). [zenodo.org]
Treatment
A prompt diagnosis decreases morbidity and mortality through prevention and treatment of complications. [go.gale.com]
Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported. [zenodo.org]
Prognosis
Prognosis is poor, death occurs at the median age of 39 years with a major cause represented by respiratory failure as a consequence of brain stem atrophy and neurodegeneration. [go.gale.com]
Prognosis is poor, as the clinical course of WS1 is rapidly progressive and leads to a premature death of patients at the mean age of 30 years (25–49 years). The main cause of death is respiratory failure due to brainstem atrophy [5][6]. [encyclopedia.pub]
Etiology
The aim of this narrative review is to focus on etiology, pathogenesis and natural history of WS for an adequate patient management and for the discussion of future therapeutic interventions. [go.gale.com]
Epidemiology
Epidemiology of WS1 WS1 is a very rare neurodegenerative disease. [encyclopedia.pub]
Pathophysiology
An extensive understanding of WS from pathophysiology to therapy is fundamental and more studies are necessary to better manage this devastating disease and guarantee the patients a better quality of life and longer life expectancy. [go.gale.com]
Physiology and Pathophysiology of WS1 Wolframin is in the endoplasmic reticulum (ER) membrane, which plays a key role in the ability of cells to properly fold and post-translate secretory and the ER transmembrane proteins [29][30][31]. [encyclopedia.pub]
Prevention
A prompt diagnosis decreases morbidity and mortality through prevention and treatment of complications. [go.gale.com]