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Light fixation seizure syndrome

MedGen UID:
350967
•Concept ID:
C1863767
•
Disease or Syndrome
Synonyms: Light Fixation Seizure Syndrome; M Syndrome

Professional guidelines

PubMed

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300

Recent clinical studies

Etiology

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A, Halaçlı S, Tan Ç, Kuşkonmaz B, Küpesiz A, Çetinkaya D, Sanal Ö, Tezcan İ, Çağdaş D
Scand J Immunol 2022 Nov;96(5):e13213. Epub 2022 Sep 1 doi: 10.1111/sji.13213. PMID: 36808635

Diagnosis

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300
A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A, Halaçlı S, Tan Ç, Kuşkonmaz B, Küpesiz A, Çetinkaya D, Sanal Ö, Tezcan İ, Çağdaş D
Scand J Immunol 2022 Nov;96(5):e13213. Epub 2022 Sep 1 doi: 10.1111/sji.13213. PMID: 36808635
Heerfordt-Waldenström Syndrome, A Rare Presentation of Sarcoidosis in a Patient with Old Ocular Toxoplasmosis.
Mobini M, Amiri AA, Ghasemian R, Torabizadeh Z, Fakhar M
Infect Disord Drug Targets 2021;21(4):629-633. doi: 10.2174/1871526520666200909094500. PMID: 32901589
A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes.
Jung O, Smeets R, Hanken H, Friedrich RE, Heiland M, Tagniha A, Labow B
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun;160(2):310-5. Epub 2016 Apr 27 doi: 10.5507/bp.2016.020. PMID: 27132808

Therapy

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300

Clinical prediction guides

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300

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