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18q-deletion syndrome

Andrew Murphy ◉ and A.Prof Frank Gaillard ◉ ◈ et al.

18q-deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial and distal skeletal abnormalities.

On this page:

Article:

Clinical presentation
Pathology
Radiographic features
Related articles
References

Images:

Cases and figures

Clinical presentation

The presence of the syndrome is usually evident at or soon after birth. Although there is significant phenotypic variation, some features are relatively constant and include ¹:

decreased growth
craniofacial dysmorphism
- midface hypoplasia
- frontal bossing
- "carp-like" mouth
genital hypoplasia
limb abnormalities
- clubfoot
- syndactyly
- short thumbs
neurological abnormalities
- developmental delay and intellectual disability
- ocular movement disorders
- seizures
- autism

Pathology

Chromosome 18q syndrome appears to result from a spontaneous, sporadic chromosomal error during very early embryonic development.

Radiographic features

MRI

The appearance of the brain on MRI is dominated by hypomyelination and abnormal white matter, particularly posteriorly and in the periventricular region. It is characterized by bilateral symmetric deep white matter hyperintensity on T2-weighted images, with associated involvement of the subcortical white matter also frequently encountered ^1,2. The brainstem and cerebellum are usually spared.

MR spectroscopy

MRS demonstrates elevated white matter choline and alpha-glutamate concentrations (resonates at 3.75 ppm) ³.

References

White matter disorders

white matter
normal myelination
terminology
white matter disorders
- demyelination
  - anti-MOG associated encephalomyelitis
  - Guillain-Barré syndrome (GBS)
    - acute inflammatory demyelinating polyradiculoneuropathy (AIDP)
    - axonal subtypes
      - acute motor axonal neuropathy (AMAN) (Chinese paralytic syndrome)
      - acute motor-sensory axonal neuropathy (AMSAN)
    - regional GBS syndromes
      - Miller Fisher variant
      - Bickerstaff encephalitis
  - chronic inflammatory demyelinating polyneuropathy (CIDP)
  - transverse myelitis
  - tumefactive demyelinating lesions
  - acute disseminated encephalomyelitis (ADEM)
    - Callen MS-ADEM criteria
  - acute hemorrhagic encephalomyelitis (AHEM)
  - neuromyelitis optica (NMO) (Devic disease)
    - signs
      - marbled pattern of the corpus callosum
      - longitudinally extensive spinal cord lesion (LESCL)
  - multiple sclerosis (MS)
    - McDonald diagnostic criteria for MS (current 2017 revision)
      - previous 2016 MAGNIMS consensus
    - signs
    - variants
      - tumefactive multiple sclerosis
      - acute malignant Marburg type
      - Schilder type (diffuse cerebral sclerosis)
      - Balo concentric sclerosis (BCS)
      - opticospinal multiple sclerosis (OSMS)
  - radiologically isolated syndrome (RIS)
  - clinically isolated syndrome (CIS)
- astrocytopathies
- leuko-axonopathies
  - early-onset neuronal degenerative disorders
    - GM1 & GM2 gangliosidoses (e.g. Tay Sachs disease)
  - giant axonal neuropathy
  - hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
  - hypomyelination with congenital cataract
  - leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  - hypomyelination with brainstem and spinal cord involvement and leg spasticity
  - Pol III-related leukodystrophies
- leuko-vasculopathies
- microgliopathies
  - CSF1R-related disorders
    - adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
    - pigmentary ortochromatic leukodystrophy
  - Nasu Hakola disease
- myelin disorders
  - hypomyelination
  - demyelination
    - metachromatic leukodystrophy
  - myelin vacuolisation
    - Canavan disease
    - globoid cell leukodystrophy (Krabbe disease)
    - mitochondrial disorders
    - multiple sulfatase deficiency
    - phenylketonuria
    - x-linked adrenoleukodystrophy
- other
  - adult-onset autosomal dominant leukodystrophy
  - cerebrotendinous xanthomathosis
  - cystic leukoencephalopathy without megalencephaly
  - L-2-hydroxyglutaric aciduria
  - lysosomal storage diseases
    - free sialic acid storage disorders (e.g. Salla disease)
    - Niemann-Pick disease
  - peroxisomal disorders
    - Zellweger syndrome
  - Sjögren-Larsson syndrome

Article information

rID: 8349

System: Central Nervous System, Musculoskeletal, Paediatrics

Section: Syndromes

Tag: chromosomal, congenital, syndrome

Synonyms or Alternate Spellings:

Chromosome 18q deletion syndrome
18q deletion syndrome

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Cases and figures

Case 1 : T2Case 1 : T2

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Case 1 : MRSCase 1 : MRS

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