Generalized alopecia and microcephaly were also present. [zenodo.org]

• 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]

• 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]

• Behavior Disorder

  Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. [zenodo.org]

• 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]

Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). [zenodo.org]

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 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]

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 of WS1 WS1 is a very rare neurodegenerative disease. [encyclopedia.pub]

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]

A prompt diagnosis decreases morbidity and mortality through prevention and treatment of complications. [go.gale.com]