Case Report of International Journal of Case Reports
A Patient with ACHOO – The Autosomal Dominant Compelling Helio-Ophthalmic Outburst syndrome
J. Kelly Smith, MD, FACP
Departments of Academic Affairs and Biomedical Sciences, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, TN 37614.
The patient is a 36-year-old woman who was referred to our allergy-immunology clinic by her primary care physician to be assessed for a possible allergic disorder.
The patient states that since early teenage she has had frequent bouts of sneezing generally preceded by nasal itching and often occurring when she first goes outdoors. She denies having a chronic cough or wheezing and has no symptoms suggestive of allergic conjunctivitis or sinusitis. She has not had urticaria or anaphylactoid reactions. Her mother and 29-year-old sister have similar complaints but have never been assessed for possible allergies. The patient’s medical history is otherwise unremarkable.
On physical examination her vital signs were within normal limits. Her conjunctivae were not inflamed or edematous and she had no edema or pallor of her nasal mucosa and no tenderness of her paranasal sinuses. Her lungs were clear to auscultation and free of wheezes on deep breathing. The remainder of her exam was unremarkable.
Laboratory assessment revealed a normal complete blood count and metabolic panel. Skin testing to 66 regional allergens was negative, and her serum IgG, IgA, IgM, IgD, and IgE levels were within normal limits.
Because she was suspected as having ACHOO, she was dark adapted and then exposed to a bright light which instantaneously precipitated her nasal itching and sneezing, confirming the diagnosis.
Keywords: Autosomal Dominant Compelling Helio-Ophthalmic Outburst syndrome, ACHOO, case report
How to cite this article:
J. Kelly Smith. A Patient with ACHOO – The Autosomal Dominant Compelling Helio-Ophthalmic Outburst syndrome. International Journal of Case Reports, 2020 4:153. DOI: 10.28933/ijcr-2020-07-2905
1. Pratt V M, McLeod H L, Rubinstein W S, Scott S A, Dean L C, Kattman B L, et. al. ACHOO syndrome. In: Medical Genetics Summaries [Internet} Bethesda (MD): National Center for Biotechnology Information (US);212-212 Oct 15.
2. Beckman L, Nordenson I. Individual differences with respect to the sneezing reflex: an inherited physiological trait in man? Human Heredity. 1983; 33: 390–391.
3. Langer N, Beeli G, Jäncke L. When the sun prickles your nose: an EEG study identifying neural basis of photic sneezing. PLoS One. 2010; 5(2): e9208. doi: 10.1371/journal.pone.0009208.
4. Do, M T H. Melanopsin and the intrinsically photosensitive retinal ganglion cells: biophysics to behavior. Neuron. 2019;104(2): 205-226.
5. Seijo-Martinez M, Varela-Freijanes A, Grandes J, Vazquez F. Sneeze related area in the medulla: localization of the human sneezing centre? Journal of Neurology Neurosurgery and Psychiatry. 2006; 77: 559–561.
6. Verma L, Venkatesh P, Tewari H K. Phototoxic retinopathy. Ophthalmol Clin North Amer. 2001; 14(4): 601-609.
This work and its PDF file(s) are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.