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Miller-Dieker Syndrome

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Miller-Dieker Syndrome Miller-Dieker Syndrome In 1963, Miller reported two siblings with a specific pattern 3. Classification of lissencephaly (Dobyns et al., 1984) of malformations in which lissencephaly was a key feature. a. Type I Later in 1969, Dieker et al. described a similar condition. Jones i. Isolated lissencephaly sequence et al. in 1980 further characterized the phenotype and suggest- ii. Miller-Dieker syndrome ed the designation Miller-Dieker syndrome to distinguish it iii. Nonclassified forms from other lissencephaly syndromes. At present, Miller-Dieker b. Type II syndrome is known to be a contiguous gene disorder caused by i. Walker-Warburg syndrome haplo-insufficiency of a gene or genes having a major role in ii. Fukuyama congenital muscular dystrophy the development of the brain and the face. iii. Nonunclassified forms c. Rare forms GENETICS/BASIC DEFECTS i. Neu-Laxova syndrome 1. Genetics: a contiguous gene deletion syndrome involving ii. Cerebro-cerebellar syndrome chromosome 17p13.3 4. Cytogenetic mechanisms in Miller-Dieker syndrome a. Association of Miller-Dieker syndrome and del(17) (Dobyns et al., 1991) (p13) a. De novo abnormalities (44%) i. First reported by Dobyns et al. in 1983 i. Deletion (terminal or interstitial) (36%) ii. Familial cases reported by Miller (1963) with ii. Dicentric translocation (4%) affected members being carriers of an unbal- iii. Ring chromosome (4%) anced rearrangement from t(15;17)(q26.1;p13.3) b. Familial rearrangement (12%) iii. Family reported by Dieker et al. (1969) with i. Reciprocal translocation (8%) affected members being carriers of an unbal- ii. Pericentric inversions (4%) anced rearrangement from t(12;17) (q24.31; c. Normal karyotype (44%) p13.3) i. Submicroscopic deletion (36%) b. A microdeletion in a critical 350 kb region of chro- ii. No deletion detected (8%) mosome 17p13.3 observed in familial and sporadic 5. Molecular explanation for Miller-Dieker syndrome cases, detected by high resolution banding a. Heterozygous deletions of 17p13.3 result in the c. Southern blot analysis of restriction fragment length human neuronal migration disorders polymorphism with several different DNA markers in i. Isolated lissencephaly sequence 17p13.3, and later FISH analysis using different DNA ii. More severe Miller-Dieker syndrome probes of this segment b. Mutations in PAFAH1B1 (the gene encoding LIS1): i. Observed in >90% of patients with Miller- responsible for isolated lissencephaly sequence and Dieker syndrome contributing to Miller-Dieker syndrome ii. Observed in 38% of patients with isolated c. The gene encoding 14-3-3 Ó (YWHAE), one of a lissencephaly family of ubiquitous phosphoserine/threonine-bind- 2. Mutations and large deletions of the lissencephaly gene ing proteins: always deleted in individuals with (LIS1) Miller-Dieker syndrome, providing a molecular a. Deletions involving LIS1: more common than explanation for the differences in severity of human mutations neuronal migration defects with 17p13.3 deletions b. LIS1 deleted in Miller-Dieker syndrome c. LIS1 mutations observed in patients with isolated CLINICAL FEATURES lissencephaly sequence 1. Prenatal and neonatal history i. Missense mutations a. Polyhydramnios ii. Nonsense mutations b. Prenatal growth deficiency iii. Small deletions or insertions c. Neonatal resuscitation iv. Splice site mutations d. Neonatal jaundice v. Partial deletions e. Postnatal growth deficiency d. Phenotype–genotype correlations 2. CNS anomalies i. Most severe LIS phenotypes observed in patients a. Type I (classical) lissencephaly: can occur either in asso- with large deletions of 17p13.3 ciation with the Miller-Dieker syndrome or as an isolat- ii. Milder phenotypes observed in patients with ed finding, termed “isolated lissencephaly sequence” intragenic mutations i. Agyria (absent gyration of the cerebral cortex) iii. Mildest phenotypes observed in patients with ii. Pachygyria (unusually thick convolutions of the missense mutations cerebral cortex) 650 MILLER-DIEKER SYNDROME 651 b. Absent or hypoplastic corpus callosum b) Submicroscopic deletions by FISH observed c. Cavum septi pellucidi in increasing numbers d. Midline calcification b. Norman-Roberts syndrome e. Ventricular dilatation i. Probably an autosomal recessive disorder f. Abnormal positioning of the olivary nuclei in the ii. Brain abnormalities midbrain a) Lissencephaly (type I) g. Occasional mild cerebellar vermis hypoplasia b) Numerous heterotopias h. Microcephaly c) Failure of opercularization i. Seizures usually by age 9 weeks d) Slightly enlarged ventricles (probable j. Cerebral palsy colpocephaly) k. Profound mental retardation e) Probable hypoplasia of the corpus callosum 3. Craniofacial features iii. Neurologic abnormalities a. High, prominent and wrinkled forehead a) Profound mental retardation b. Bitemporal narrowing b) Decreased spontaneous activity c. Furrowed brow c) Poor feeding d. Epicanthal folds d) Seizures e. Broad nasal bridge iv. Cranial abnormalities f. Short and pointed nose with anteverted nostrils a) Microcephaly g. Long prominent upper lip with thin upper vermilion b) Bitemporal hollowing border c) Slightly prominent occiput h. Micrognathia d) Low, sloping forehead i. High arched palate v. Facial features j. Low-set and malformed ears a) Widely set eyes 4. Congenital heart defects b) Broad, prominent nasal bridge 5. Omphalocele c) Micrognathia 6. Hands and fingers d) Absence of upturned nares a. Clinodactyly e) Normal eyes b. Camptodactyly vi. Other features c. Transverse palm crease a) Clinodactyly 7. Sacral dimple b) Chordee 8. Cryptorchidism c) Low birth weight 9. Prognosis: often die within the first few months of life vii. Normal chromosomes 10. Differential diagnosis c. Walker-Warburg syndrome a. Isolated lissencephaly sequence i. Most commonly seen in the United Kingdom i. Brain abnormalities ii. An autosomal recessive disorder a) Lissencephaly (type I) iii. Type II lissencephaly b) Numerous heterotopias iv. Hydrocephalus c) Failure of opercularization v. Cerebellar malformation (vermian hypoplasia) d) Enlarged ventricles (usually colpocephaly) vi. Eye abnormalities e) Probable hypoplasia of the corpus callosum a) Retinal dysplasia ii. Neurologic abnormalities b) Microphthalmia a) Profound mental retardation c) Colobomata b) Decreased spontaneous activity d) Cataracts c) Early hypotonia e) Glaucoma d) Subsequent hypertonia f) Corneal clouding commonly due to a Peter e) Poor feeding anomaly f) Seizures g) Congenital muscular dystrophy in all patients iii. Craniofacial features h) Elevated CK a) Microcephaly i) Abnormal EMG b) Bitemporal hollowing j) Pathological changes on muscular histology c) Prominent occiput vii. Other abnormalities d) Micrognathia a) Cleft lip/palate iv. Occasional abnormalities b) Genital anomalies in males: cryptorchidism, a) Prenatal: polyhydramnios, decreased fetal small penis movement c) Occasional contractures b) Postnatal: may require resuscitation at birth d. Muscle-eye-brain disease c) Neurological: infantile spasms i. Mainly reported in Finnish population v. Chromosome studies ii. An autosomal recessive disorder a) Normal chromosomes by conventional studies iii. Type II lissencephaly 652 MILLER-DIEKER SYNDROME iv. Hydrocephalus i. Approximately 26% risk in all recognized preg- v. Eye abnormalities nancies a) Primarily myopia ii. 33% risk in pregnancies which remain viable in b) Occasional glaucoma, retinal dystrophy, and the second trimester or after cataracts iii. Frequency of spontaneous miscarriages and still- vi. Congenital muscular dystrophy: a constant feature births not appear to be unduly elevated in these vii. Elevated CK levels families viii. Hypotonia 2. Prenatal diagnosis ix. Feeding difficulties a. Ultrasonography for pregnancy at risk x. Severe mental retardation i. Polyhydramnios xi. Seizures common ii. IUGR e. Fukuyama congenital muscular dystrophy iii. Lissencephaly i. Mainly reported in the Japanese population iv. Microcephaly ii. An autosomal recessive disorder v. Mild ventriculomegaly iii. Cobblestone lissencephaly (type II) vi. Absence of corpus callosum iv. Eye abnormalities vii. Cardiac and other malformations a) Myopia b. Prenatal diagnosis by amniocentesis or CVS b) Optic atrophy in some patients i. Indications v. Muscular dystrophy in all patients a) Carrier parents with balanced chromosome vi. CK levels ranging from 10–50 times of normal rearrangements involving 17p13 vii. Hypotonia b) Probably parents of all Miller-Dieker syn- viii. Marked mental retardation drome patients because of the small possi- bility of gonadal mosaicism in apparently de novo cases DIAGNOSTIC INVESTIGATIONS c) Normal relatives of unknown karyotype 1. Chromosome analysis to detect microdeletion at 17p13.3 ii. Cytogenetic analysis a. High resolution analysis indicated for all patients a) High resolution analysis of chromosome 17 with type I or atypical lissencephaly b) Molecular cytogenetic studies (FISH) b. Molecular cytogenetic technology using FISH to 3. Management detect a submicroscopic deletion when chromosome a. Supportive care analysis is normal and Miller-Dieker syndrome is sus- b. Early infant intervention pected based on clinical evaluation c. Anticonvulsants for seizures c. Parental studies in case of positive findings 2. MRI of the newborn brain REFERENCES a. Smooth brain Alvarado M, Bass HN, Caldwell S, et al.: Miller-Dieker syndrome: Detection of b. Bilateral primitive Sylvian fissure giving rise to a a cryptic chromosome translocation using in situ hybridization in a family “figure 8” appearance of the brain with
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