They differ in clinical presentation, underlying genetic abnormalities, as well as microscopic and macroscopic (including imaging) appearances 2,6. They themselves represent a heterogeneous group of disorders. [radiopaedia.org]

Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. [ncbi.nlm.nih.gov]

If an underlying syndrome is present, there may be additional symptoms and physical findings. [rarediseases.org]

• Swelling

  Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [ncbi.nlm.nih.gov]

• Muscle Rigidity

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

• Muscular Atrophy

  Muscular atrophy MedGen UID: 892680 •Concept ID: C0541794 • Pathologic Function The presence of skeletal muscular atrophy (which is also known as amyotrophy). [ncbi.nlm.nih.gov]

  Atrophy AD 100 104 of 104 EML1 Band Heterotopia AR 98.88 7 of 7 ETFA Multiple Acyl-CoA Dehydrogenase Deficiency AR 92.33 32 of 32 ETFB Multiple Acyl-CoA Dehydrogenase Deficiency AR 100 21 of 21 ETFDH Multiple Acyl-CoA Dehydrogenase Deficiency AR 100 [igenomix.es]

• Global Developmental Delay

  […] ability to walk Delayed fine motor development Delayed gross motor development Delayed social development Delayed speech and language development Global developmental delay Hypoplasia of the brainstem Hypoplasia of the corpus callosum Intellectual disability [ncbi.nlm.nih.gov]

• Delayed Speech and Language Development

  Autistic behavior Cerebellar hypoplasia Cerebral hypomyelination Cobblestone lissencephaly Delayed ability to walk Delayed fine motor development Delayed gross motor development Delayed social development Delayed speech and language development Global [ncbi.nlm.nih.gov]

• Poor or Absent Speech

  Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. [ncbi.nlm.nih.gov]

• Walking Delay

  Delayed ability to walk MedGen UID: 66034 •Concept ID: C0241726 • Finding A failure to achieve the ability to walk at an appropriate developmental stage. [ncbi.nlm.nih.gov]

• Occipital Encephalocele

  Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of lissencephaly type 1 is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

PMID: 2210085 Prognosis Jauhari P, Farmania R, Chakrabarty B, Kumar A, Gulati S Seizure 2020 Dec;83:175-180. Epub 2020 Oct 31 doi: 10.1016/j.seizure.2020.10.020. [ncbi.nlm.nih.gov]

[…] development Delayed speech and language development Global developmental delay Hypoplasia of the brainstem Hypoplasia of the corpus callosum Intellectual disability Occipital encephalocele Polymicrogyria Retrocerebellar cyst Seizure Ventriculomegaly Etiology [ncbi.nlm.nih.gov]

Epidemiology of lissencephaly type 1. Neuroepidemiology 1991.10: 200-4. Guerrini R and Filippi T. Neuronal migration disorders, genetics and epileptogenesis. J Child neurol. 2005;20. 287-299. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. [malattierare.toscana.it]

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. [medlineplus.gov]

Treatment may include measures to improve the intake of nutrients in infants with feeding difficulties; the administration of anticonvulsant drugs to help prevent, reduce, or control seizures; and/or other measures. [rarediseases.org]