Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report
ABSTRACT: Objective: We are reporting a case of infantile hypophosphatasia (HPP) in a patient who presented with pseudotumor cerebri (PTC). This is an extremely rare clinical condition to present during infancy, much less secondary to a rare etiology such as HPP.Methods: The clinical, laboratory, ra...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-01-01
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| Series: | AACE Clinical Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060520303412 |
| _version_ | 1819020809824370688 |
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| author | Abeer Alassaf, MD Amira Masri, MD Etienne Mornet, MD, PhD Rasha Odeh, MD Abdelkarim A. Al-Qudah, MD |
| author_facet | Abeer Alassaf, MD Amira Masri, MD Etienne Mornet, MD, PhD Rasha Odeh, MD Abdelkarim A. Al-Qudah, MD |
| author_sort | Abeer Alassaf, MD |
| collection | DOAJ |
| description | ABSTRACT: Objective: We are reporting a case of infantile hypophosphatasia (HPP) in a patient who presented with pseudotumor cerebri (PTC). This is an extremely rare clinical condition to present during infancy, much less secondary to a rare etiology such as HPP.Methods: The clinical, laboratory, radiologic, and genetic findings are presented with a brief review of the literature.Results: A female infant presented with symptoms suggestive of increased intracranial pressure and hypotonia. Her brain magnetic resonance imaging (MRI) and magnetic resonance venography were normal, but her cerebrospinal fluid (CSF) pressure was very high (77 cm). We diagnosed her with PTC. Work up revealed HPP, and genetic analysis revealed a homozygous mutation in c.214A>G (p.I72V). Among only 4 other cases reported in the literature, our case is unique in that it had the highest CSF pressure ever reported with such a rare association; in addition, our patient had the youngest age of presentation.Conclusion: HPP can present with infantile PTC. Early diagnosis and management may modify the clinical course, particularly the visual complications.Abbreviations: CSF cerebrospinal fluid HPP hypophosphatasia PTC pseudotumor cerebri TNALP tissue nonspecific alkaline phosphatase |
| first_indexed | 2024-12-21T03:57:07Z |
| format | Article |
| id | doaj.art-796d402746174deea975c296c86d95ad |
| institution | Directory Open Access Journal |
| issn | 2376-0605 |
| language | English |
| last_indexed | 2024-12-21T03:57:07Z |
| publishDate | 2015-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | AACE Clinical Case Reports |
| spelling | doaj.art-796d402746174deea975c296c86d95ad2022-12-21T19:16:48ZengElsevierAACE Clinical Case Reports2376-06052015-01-0114e221e224Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case ReportAbeer Alassaf, MD0Amira Masri, MD1Etienne Mornet, MD, PhD2Rasha Odeh, MD3Abdelkarim A. Al-Qudah, MD4From the Pediatric Endocrinology Division, The University of Jordan, Amman, Jordan; Address correspondence to Dr. Abeer Alassaf; Pediatric Endocrinology Division, The University of Jordan; 11942, P.O. Box 13046, Queen Rania Street; Amman, Jordan.Pediatric Neurology Division, The University of Jordan, Amman, JordanUnité de Génétique Constitutionnelle, Service de Biologie, Centre Hospitalier de Versailles, Le Chesnay, France.From the Pediatric Endocrinology Division, The University of Jordan, Amman, JordanPediatric Neurology Division, The University of Jordan, Amman, JordanABSTRACT: Objective: We are reporting a case of infantile hypophosphatasia (HPP) in a patient who presented with pseudotumor cerebri (PTC). This is an extremely rare clinical condition to present during infancy, much less secondary to a rare etiology such as HPP.Methods: The clinical, laboratory, radiologic, and genetic findings are presented with a brief review of the literature.Results: A female infant presented with symptoms suggestive of increased intracranial pressure and hypotonia. Her brain magnetic resonance imaging (MRI) and magnetic resonance venography were normal, but her cerebrospinal fluid (CSF) pressure was very high (77 cm). We diagnosed her with PTC. Work up revealed HPP, and genetic analysis revealed a homozygous mutation in c.214A>G (p.I72V). Among only 4 other cases reported in the literature, our case is unique in that it had the highest CSF pressure ever reported with such a rare association; in addition, our patient had the youngest age of presentation.Conclusion: HPP can present with infantile PTC. Early diagnosis and management may modify the clinical course, particularly the visual complications.Abbreviations: CSF cerebrospinal fluid HPP hypophosphatasia PTC pseudotumor cerebri TNALP tissue nonspecific alkaline phosphatasehttp://www.sciencedirect.com/science/article/pii/S2376060520303412 |
| spellingShingle | Abeer Alassaf, MD Amira Masri, MD Etienne Mornet, MD, PhD Rasha Odeh, MD Abdelkarim A. Al-Qudah, MD Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report AACE Clinical Case Reports |
| title | Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report |
| title_full | Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report |
| title_fullStr | Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report |
| title_full_unstemmed | Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report |
| title_short | Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report |
| title_sort | pseudotumor cerebri as a rare presentation of infantile hypophosphatasia a case report |
| url | http://www.sciencedirect.com/science/article/pii/S2376060520303412 |
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