In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). [orpha.net]

A neonatal case of provisional neurocutaneous melanosis presenting with lissencephaly is reported. Several congenital nevi were observed on the trunk and extremities of the infant, including a giant congenital hairy nevus over the skull. [ncbi.nlm.nih.gov]

• Poor Feeding

  Treatment of manifestations: Poor feeding may require nasogastric tube feedings in newborns and later placement of a gastrostomy tube. [ncbi.nlm.nih.gov]

• Failure to Thrive

  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. [ninds.nih.gov]

  Children born with lissencephaly may have an unusual facial appearance, difficulty swallowing, failure to thrive, and severe psychomotor retardation. Anomalies of the hands, fingers, or toes, muscle spasms, and seizures may also occur. [medicinenet.com]

• Muscle Spasticity

  Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities of the limbs, fingers and toes and failure to thrive. [disabilitybenefitscenter.org]

  Lissencephaly Symptoms Children affected by this disorder may display various symptoms like: Ataxia Seizures Microcephaly Failure to thrive Difficulty in swallowing Unusual facial appearance Hypotonia or muscle spasticity Severe psychomotor retardation [hxbenefit.com]

  They usually present with seizures, muscle spasticity, low muscle tone and a number of other neurological symptoms. [disability-benefits-help.org]

• Muscle Hypotonia

  Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities of the limbs, fingers and toes and failure to thrive. [disabilitybenefitscenter.org]

• Facial Edema

  The fetus had normal 46, XY karyotype and similar anomalies found in the index case, with cranio-facial edema and arthrogryposis. X-ray films showed epiphyseal stippling of cervical vertebrae, feet and sacrum. [ncbi.nlm.nih.gov]

• 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. [ninds.nih.gov]

  MR imaging of a patient with epilepsy and psychomotor retardation at 5 months revealed parieto-occipital pachygyria with almost normal cortical appearance and thickness in the frontal region; this appearance evolved into diffuse pachygyria at 7 years. [ncbi.nlm.nih.gov]

  Clinical description Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. [orpha.net]

  Other symptoms associated to lissencephaly and the disorders associated to it (ILS, Miller-Dieker, Walker-Warburg) include: seizures and spasms, trouble swallowing and feeding, intellectual impairment, malformation in hands and feet and psychomotor retardation [amplexa.com]

• Neonate-Onset

  Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. [ncbi.nlm.nih.gov]

• Seizure

  Seizures may be particularly problematic but anticonvulsant medications can help. [ninds.nih.gov]

  […] muscle jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). [ghr.nlm.nih.gov]

  It is to consider lissencephaly in the diagnosis of developmental delay with seizure disorder as many patients may be diagnosed as cerebral palsy. [ncbi.nlm.nih.gov]

• Drop Attacks

  After the first months of life, most children with ILS develop a variety of seizure types, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled [ghr.nlm.nih.gov]

• Hypsarrhythmia

  Approximately 80% have infantile spasms, although the EEG does not always show the typical hypsarrhythmia pattern. The onset of infantile spasms may be associated with a decline in function. [ncbi.nlm.nih.gov]

• Hyponatremia

  Hyponatremia is the most frequent electrolyte disorder in critically ill neurological patients. [ncbi.nlm.nih.gov]

Management and treatment Management is symptomatic only (swallowing problems require adapted feeding to prevent food aspiration, articular and respiratory physiotherapy to prevent orthopaedic problems resulting from hyptonia, and treatment of gastrooesophageal [orpha.net]

Treatment There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. [ninds.nih.gov]

Thus, SNJ1945 is a potential drug for the treatment of human lissencephaly patients. [ncbi.nlm.nih.gov]

Further Reading Lissencephaly Symptoms Lissencephaly Treatment Lissencephaly Types [news-medical.net]

Prognosis The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. [ninds.nih.gov]

After receiving genetic counseling, the parents elected to terminate the pregnancies based on the neuroradiological findings and the associated severe prognosis. [ncbi.nlm.nih.gov]

LISI and DCX) has allowed etiologic diagnosis of this disorder feasible. [ncbi.nlm.nih.gov]

Etiology The condition is caused by doublecortin ( DCX, located at Xq22.3-q23) gene mutations. [orpha.net]

Among the viral infections, CMV is a very important etiological factor in the causation of lissencephaly. Other causes of central nervous system infections are toxoplasmosis, rubella, herpes simplex, human immunodeficiency virus and syphilis. [doi.org]

Summary Epidemiology The incidence of all forms of type I lissencephaly is around 1 in 100,000 births. [orpha.net]

Epidemiology of lissencephaly type I. Neuroepidemiology 1991;10:200-4. 3. Malinger G, Lev D, Zahalka N, Ben Aroia Z, Watemberg N, Kidron D, et al. Fetal cytomegalovirus infection of the brain: The spectrum of sonographic findings. [doi.org]

Using routine immunohistochemistry and confocal microscopy, we show evidence for defects in axonal transport in addition to defects in neuronal migration and differentiation, giving new insights to the pathophysiology of this form of lissencephaly. [ncbi.nlm.nih.gov]

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3. Review. Guerrini R, Parrini E. [ghr.nlm.nih.gov]

Management and treatment Management is symptomatic only (swallowing problems require adapted feeding to prevent food aspiration, articular and respiratory physiotherapy to prevent orthopaedic problems resulting from hyptonia, and treatment of gastrooesophageal [orpha.net]

Lissencephaly, a disorder that affects a baby’s brain in preventing it from developing folds or grooves. A baby with Lissencephaly will be very smoothed while lacking wrinkles. [cbdreviews.net]

A little boy born with a rare brain disease that prevented him from being able to cry or feed properly, has died at just eight weeks old. [dailymail.co.uk]