Case Report
 
Heŕmanský–Pudlák syndrome: A case report
Sonali Someek Basu1, Pranav Kumar2
1BPT Registrar, FRACP, Mackay Base Hospital, Queensland Health, Australia
2FRACP Respiratory Physician, Mackay Base Hospital, Queensland Health, Australia

Article ID: 100886Z01SB2018
doi: 10.5348/100886Z01SB2018CR

Corresponding Author:
Dr. Pranav Kumar,
Mackay Base Hospital,
475 Bridge Road, Mackay,
Queensland 4740, Australia

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How to cite this article
Basu SS, Kumar P. Heŕmanský–Pudlák syndrome: A case report. Int J Case Rep Images 2018;9:100886Z01SB2018.


ABSTRACT

Heŕmanský–Pudlák syndrome (HPS) is hereditary multi system, a rare autosomal recessive disorder with heterogeneous locus characterized by tyrosine positive oculocutaneous albinism, congenital nystagmus, platelet storage pool deficiency - hemorrhagic bleeding tendency and systemic manifestations due to lysosomal accumulation of ceroid lipofuscin in different organs includes pulmonary fibrosis and granulomatous enteropathy colitis and renal failure. Depending upon the organ system symptoms and signs, the presentation of HPS can be varied and diagnosis can be challenging. The most frequently used criteria for diagnosis of HPS as per National Organization of Rare Disease (NORD) revised 2015 are albinism and prolong bleeding. Symptoms due to ceroid lipofuscin deposition in lungs, colon, heart and kidneys can occur. Differentiating this condition from other diseases that cause oculocutaneous albinism such as ocular albinism, Griscelli syndrome and Chédiak–Higashi syndrome by presence of neurological symptoms and frequent bacterial infections due to immunodeficiency and analysis of peripheral blood smear with prolong bleeding time. Also gene study differentiates these conditions. Early diagnosis is crucial to prevent complications associated with HPS by supportive care, rehabilitation and multidisciplinary team approach.

Keywords: Gene and data base, Heŕmanský–Pudlák syndrome, Multiple skin cancer, Oculocutaneous albinism, Pulmonary fibrosis


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Author Contributions
Sonali Someek Basu – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Pranav Kumar – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of Submission
The corresponding author is the guarantor of submission.
Source of Support
None
Consent Statement
Written informed consent was obtained from the patient for publication of this case report.
Conflict of Interest
Author declares no conflict of interest.
Copyright
© 2018 Sonali Someek Basu et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.