Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to [jhu.pure.elsevier.com]

Tethered Spinal Cord – presents as lower limb spasticity with deficits to bowel and bladder function. [learn.pediatrics.ubc.ca]

Evidence for global neurologic disease, primarily spasticity, may be present as early as 3 months of age. Intellectual disability ranges from borderline to severe. [disorders.eyes.arizona.edu]

Symptoms can present themselves as early as three months but are generally seen before the child reaches two years of age. [en.wikipedia.org]

Case presentation Patient 1 The proband (Fig. 1, V: 2) is 1-month-old Saudi boy born normally at term to first 24-year- old parents. [bmcneurol.biomedcentral.com]

• Psychomotor Retardation

  Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. [owenjamesdicandilo.com]

  The clinical and radiographic presentation of our patients, namely congenital microcephaly, hyperekplexia, brain malformation, and (in long term survivors) severe psychomotor retardation and cortical blindness is identical to that observed in the patients [bmcneurol.biomedcentral.com]

[…] without any CNS infection, a nontraumatic LP infrequently shows CSF pleocytosis (96% have [38] or low CSF glucose concentration (hypoglycorrhachia) which can be caused by GLUT1 deficiency. [40] Depending on associated symptoms, a complete metabolic workup [ijcpjournal.org]

• Multifocal Independent Spikes

  Multifocal independent spikes and polyspikes were eventually noted after the onset of epilepsy. Brain stem auditory and visual evoked responses (six patients) were normal. [jmg.bmj.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

[…] and other new treatments; and the neurologic effects of illicit drug use. [books.google.com]

Treatment for Megalencephaly Treatment is symptomatic. Prognosis for Infants with Megalencephaly Prognosis varies according to the severity of associated disorders. Prognosis for those afflicted with unilateral megalencephaly is poor. [healthcommunities.com]

In a survey study on pain treatments used by patients with cerebral calsy, the researchers found, “The treatment that was rated as providing the most relief was marijuana; however, less than 5% of the sample reported ever using this drug for pain.” [medicaljane.com]

More Symptoms of Cerebral palsy spastic quadriplegic » Diagnosis See also related information on diagnosis: Diagnosis of Cerebral Palsy Treatments See also the following treatment articles: Treatments for Cerebral Palsy Causes See also causal information [familydiagnosis.com]

Prognosis for Infants with Megalencephaly Prognosis varies according to the severity of associated disorders. Prognosis for those afflicted with unilateral megalencephaly is poor. [healthcommunities.com]

Prognosis - Microcephaly with spastic quadriplegia Not supplied. Treatment - Microcephaly with spastic quadriplegia Not supplied. Resources - Microcephaly with spastic quadriplegia Not supplied. [checkorphan.org]

I believe, however, that a more discriminating definition is useful if the physician is to draw conclusions about the etiology, management and prognosis of the patient and his/her motor disability. [austinpublishinggroup.com]

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities. [zikavirusnet.com]

[…] children with developmental delay concluded definite etiology in 56%, genetic causes being most common. [ruralneuropractice.com]

In this definition the etiology and the timing of the brain injury is important. [austinpublishinggroup.com]

One syndrome can have different etiologies and prognoses. [ijcpjournal.org]

The designation of cerebral palsy as an entity, despite the heterogeneity of underlying etiologic conditions, is valuable because afflicted children commonly have similar medical care, rehabilitation, and social services needs. [neupsykey.com]

There are a variety of underlying etiologies and a wide range in severity making CP difficult to diagnose. [learn.pediatrics.ubc.ca]

The book also provides updated epidemiologic and statistical data throughout and includes a section on biostatistics in physical medicine and rehabilitation. [books.google.com]

In most epidemiologic studies, preterm infants constitute approximately half of all infants with cerebral palsy. [neupsykey.com]

Update on the epidemiology and prognosis of pediatric epilepsy. J Child Neurol 2002;17 Suppl 1:S4-17. 76. Kakushadze ZN, Bokeriia IR, Natroshvili IG, Kandareli LG, Davituliani Kh R. [ijcpjournal.org]

Pathophysiology of epilepsies and electroencephalographic findings CP etiology may predict the development of epilepsy. The larger/more critical the area damaged in the brain, the greater is the probability of developing both CP and epilepsy. [ijcpjournal.org]

It can be prevented with a vaccine. Chickenpox (varicella). Chickenpox is a contagious viral infection that causes itching and rashes, and it can cause pregnancy complications. It too can be prevented with a vaccine. Cytomegalovirus. [mayoclinic.org]

Causes - Microcephaly with spastic quadriplegia Other Possible Causes of these Symptoms * Infantile spasms * Mental retardation * Small head * Spastic quadriplegia Prevention - Microcephaly with spastic quadriplegia Not supplied. [checkorphan.org]

In most cases, a special serum given after each childbirth can prevent the unwanted production of antibodies. [healing-arts.org]

Until 2015 ACOG recommended more aggressive prevention efforts, especially for women who are around toddlers, who can be hot zones for viral transmission with all their dribbling and drooling. [npr.org]

Mittens may be needed during teething to prevent damage to fingers and hands. [aafp.org]