Klinische FragestellungRett-like-Syndrom, Differentialdiagnose

NGS +

[Sanger]

Rett-like bzw. Rett-variant Syndrom weist ein breiteres klinisches Spektrum als das klassische Rett Syndrom im weibliche Geschlecht auf. Diese Spanne reicht von leichten Lernschwierigkeiten bis zur schweren Enzephalopathie des Neugeborenen bzw. Parkinsonismus oder schwere syndromische psychomotorische Retardierung. Die Symptome setzen demgemäß früh ein, und die verschiedenen Vererbungsmuster hängen vom betroffenen Gen (bzw. mehreren Genen) ab. Selbst mittels umfangreichen panel Untersuchungen mit mehreren Dutzend Genen findet man bei einigen Patienten abhängig von der klinischen Abklärung keine simple genetische Ursache.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1497/

• Sympt.: Autism, dementia, ataxia, loss of purposeful hand use
• Sympt.: Developmental decline, speech loss, stereotypic movements hands, microcephaly, seizures, MR
• Alias: Rett syndrome, atypical
• Allelic: Autism susceptibility, XL 3 (MECP2)
• Allelic: Brugada syndrome 5 (SCN1B)
• Allelic: Chromosome 5q14.3 deletion syndrome (MEF2C)
• Allelic: DOORS syndrome (TBC1D24)
• Allelic: Deafness , Ar 86 (TBC1D24)
• Allelic: Deafness, AD 65 (TBC1D24)
• Allelic: Encephalopathy, neonatal severe (MECP2)
• Allelic: Epilepsy, familial focal, with variable foci 4 (SCN3A)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
• Allelic: Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
• Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Esophageal squamous cell carcinoma, somatic (WWOX)
• Allelic: Febrile seizures, familial, 3A (SCN1A)
• Allelic: Febrile seizures, familial, 8 (GABRG2)
• Allelic: Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
• Allelic: Hydranencephaly with abnormal genitalia (ARX)
• Allelic: Lissencephaly, XL 2 (ARX)
• Allelic: Mental retardation, AD 38 (EEF1A2)
• Allelic: Mental retardation, AD 6 (GRIN2B)
• Allelic: Mental retardation, AR 12 (ST3GAL3)
• Allelic: Mental retardation, XL 29 + others (ARX)
• Allelic: Mental retardation, XL syndromic, Lubs type (MECP2)
• Allelic: Mental retardation, XL, syndromic 13 (MECP2)
• Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
• Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
• Allelic: Myokymia (KCNQ2)
• Allelic: Obesity, hyperphagia + developmental delay (NTRK2)
• Allelic: Parkinson disease 20, early-onset (SYNJ1)
• Allelic: Seizures, benign familial infantile, 3 (SCN2A)
• Allelic: Seizures, benign familial infantile, 5 (SCN8A)
• Allelic: Seizures, benign neonatal, 1 (KCNQ2)
• Allelic: Spinocerebellar ataxia, AR 12 (WWOX)
• Angelman syndrome (UBE3A)
• Chromosome 5q14.3 deletion syndrome (MEF2C)
• Epileptic encephalopathy, early infantile, 1 (ARX)
• Epileptic encephalopathy, early infantile, 11 (SCN2A)
• Epileptic encephalopathy, early infantile, 12 (PLCB1)
• Epileptic encephalopathy, early infantile, 13 (SCN8A)
• Epileptic encephalopathy, early infantile, 14 (KCNT1)
• Epileptic encephalopathy, early infantile, 15 (ST3GAL3)
• Epileptic encephalopathy, early infantile, 16 (TBC1D24)
• Epileptic encephalopathy, early infantile, 17 (GNAO1)
• Epileptic encephalopathy, early infantile, 18 (SZT2)
• Epileptic encephalopathy, early infantile, 19 (GABRA1)
• Epileptic encephalopathy, early infantile, 2 (CDKL5)
• Epileptic encephalopathy, early infantile, 23 (DOCK7)
• Epileptic encephalopathy, early infantile, 24 (HCN1)
• Epileptic encephalopathy, early infantile, 25 (SLC13A5)
• Epileptic encephalopathy, early infantile, 26 (KCNB1)
• Epileptic encephalopathy, early infantile, 27 (GRIN2B)
• Epileptic encephalopathy, early infantile, 28 (WWOX)
• Epileptic encephalopathy, early infantile, 3 (SLC25A22)
• Epileptic encephalopathy, early infantile, 31 (DNM1)
• Epileptic encephalopathy, early infantile, 32 (KCNA2)
• Epileptic encephalopathy, early infantile, 33 (EEF1A2)
• Epileptic encephalopathy, early infantile, 34 (SLC12A5)
• Epileptic encephalopathy, early infantile, 35 (ITPA)
• Epileptic encephalopathy, early infantile, 37 (FRRS1L)
• Epileptic encephalopathy, early infantile, 39 /SLC25A12)
• Epileptic encephalopathy, early infantile, 4 (STXBP1)
• Epileptic encephalopathy, early infantile, 41 (SLC1A2)
• Epileptic encephalopathy, early infantile, 43 (GABRB3)
• Epileptic encephalopathy, early infantile, 49 (DENND5A)
• Epileptic encephalopathy, early infantile, 5 (SPTAN1)
• Epileptic encephalopathy, early infantile, 51 (MDH2)
• Epileptic encephalopathy, early infantile, 52 (SCN1B)
• Epileptic encephalopathy, early infantile, 53 (SYNJ1)
• Epileptic encephalopathy, early infantile, 54 (HNRNPU)
• Epileptic encephalopathy, early infantile, 58 (NTRK2)
• Epileptic encephalopathy, early infantile, 59 (GABBR2)
• Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Epileptic encephalopathy, early infantile, 60 (CNPY3)
• Epileptic encephalopathy, early infantile, 62 (SCN3A)
• Epileptic encephalopathy, early infantile, 67 (CUX2)
• Epileptic encephalopathy, early infantile, 68 (TRAK1)
• Epileptic encephalopathy, early infantile, 7 (KCNQ2)
• Epileptic encephalopathy, early infantile, 70 (PHACTR1)
• Epileptic encephalopathy, early infantile, 74 (GABRG2)
• Epileptic encephalopathy, early infantile, 75 (PARS2)
• Epileptic encephalopathy, early infantile, 77 (PIGQ)
• Epileptic encephalopathy, early infantile, 78 (GABRA2)
• Epileptic encephalopathy, early infantile, 9 (PCDH19)
• Mental retardation, AD 5 (SYNGAP1)
• Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MEF2C)
• Mowat-Wilson syndrome (ZEB2)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Neurodevelopmental disorder with involuntary movements (GNAO1)
• Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
• Partington syndrome (ARX)
• Proud syndrome (ARX)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, congenital variant (FOXG1)
• Rett syndrome, preserved speech variant (MECP2)