Andersen-Tawil syndrome physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Patients with Andersen-Tawil syndrome usually appear shorter than normal. Physical examination of patients with Andersen-Tawil syndrome is usually remarkable for hypoplastic mandible, micrognathia, broad nose, low set ears and clinodactyly.

Physical Examination

Appearance of the Patient

  • Patients with Andersen-Tawil syndrome usually appear shorter than normal.

HEENT

Findings may include:

  • Hypoplastic mandible or small mandible
  • Micrognathia
  • Low-set ears
  • Broad nose may be seen
  • Dental abnormalities: Lax jaw and poor dentition.
  • Hypertelorism (widely spaced eyes) may be noted on physical examination of the patients with Andersen-Tawil syndrome
Facial dysmorphia
Facial dysmorphia. The mouth is small(purple arrow), the ears have low implantation(yellow arrow) and the nose ridge is broad(blue arrow). Case courtesy by Stéphane Burtey et al[1]


Dental abnormalities
Dental abnormalities in patient with Andersen-Tawil syndrome. Case courtesy by Rui Fan et al[2]


Heart

  • Palpitations.
  • Syncope is usally seen in the first or second decade of the life of the patient
  • Andersen-Tawil syndrome patients have a unique cardiac finding on ECG

Neuromuscular

  • Periodic paralysis:[3][4][5][6][7]
    • The most important clinical manifestation of Andersen-Tawil syndrome patients is periodic paralysis
    • Periodic paralysis are episodic paralysis with flaccid muscle weakness
    • These periodic paralysis impairs quality of life of the patients with Andersen-Tawil syndrome
    • Triggers often may be due to change in behavior or diet, and also due to the fact that alterations in serum potassium levels.
  • Muscle weakness:[8]
    • In patients with Andersen-Tawil syndrome the muscle weakness occurs intermittently or spontaneously
    • Muscle weakness in patients with Andersen-Tawil syndrome may be occured due to prolonged rest or rest following exertion
  • Patients with Andersen-Tawil syndrome (ATS) may experience some neurological or neurocognitive defects.[9]

Extremities

clinodactyly
Characteristic deformity of hand. A: patient's right fifth finger showing clinodactyly (arrow). B: patient mother's left fifth finger also showing clinodactyly (arrow). Case courtesy by Jung Yoon Pyo et al[11]


References

  1. ↑ "Hypokalaemia and dysmorphia, is there a link?".
  2. ↑ "Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report".
  3. ↑ Levitt, Lawrence P.; Rose, Leslie I.; Dawson, David M. (1972). "Hypokalemic Periodic Paralysis with Arrhythmia". New England Journal of Medicine. 286 (5): 253–254. doi:10.1056/NEJM197202032860507. ISSN 0028-4793.
  4. ↑ Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA; et al. (2018). "Review of the Diagnosis and Treatment of Periodic Paralysis". Muscle Nerve. 57 (4): 522–530. doi:10.1002/mus.26009. PMC 5867231. PMID 29125635.
  5. ↑ Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K (2012). "The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients". Acta Myol. 31 (2): 126–33. PMC 3476862. PMID 23097604.
  6. ↑ Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; et al. (2012). "Measuring quality of life impairment in skeletal muscle channelopathies". Eur J Neurol. 19 (11): 1470–6. doi:10.1111/j.1468-1331.2012.03751.x. PMC 3492909. PMID 22607270.
  7. ↑ Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T; et al. (2011). "Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2". Cardiology. 120 (4): 200–3. doi:10.1159/000335529. PMID 22286118.
  8. ↑ Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta Paediatr Scand. 60 (5): 559–64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724.
  9. ↑ Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
  10. ↑ Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
  11. ↑ "Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome".


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