Hypophosphatasia associated with Pseudotumor cerebri and respiratory insufficiency

Teber, Serap; Sezer, Taner; Kafali, M.; Kendirli, Tanıl; Şıklar, Zeynep; Berberoğlu, Merih; Öçal, Gönül; Deda, Gülhıs

doi:10.1007/s12098-008-0029-2

Cited by 7 publications

(6 citation statements)

References 8 publications

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“…Our patient developed symptoms of PTC at a very early age: 4 weeks compared to 6 weeks to 7 months in the previously reported cases (3)(4)(5)(6). In addition, our patient had a very high CSF opening pressure (77 cm) compared to 27 to 43 cm reported in the aforementioned cases.…”

Section: Discussionsupporting

confidence: 48%

“…Hypophosphatasia (HPP) is a rare autosomal recessive disorder characterized by defective mineralization of the bones and/or teeth and deficiency of tissue nonspecific alkaline phosphatase (TNALP) activity (1,2). Pseudotumor cerebri (PTC) is an extremely rare presentation of this condition; only 4 cases were previously reported in the literature (3)(4)(5)(6). We report a rare and unique case of infantile PTC due to HPP.…”

Section: Introductionmentioning

confidence: 99%

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Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report

Alassaf

Masri

Mornet

et al. 2015

AACE Clinical Case Reports

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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.

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Section: Discussionsupporting

confidence: 48%

Section: Introductionmentioning

confidence: 99%

Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report

Alassaf

Masri

Mornet

et al. 2015

AACE Clinical Case Reports

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“…Pseudotumor cerebri may arise from abnormalities in serum calcium levels in hypo- or hypercalcemia (18). Teber et al (19) previously reported a case of HPP who had pseudotumor cerebri which resolved after glucocorticoid therapy. They suggested that, as found in their patient, pseudotumor cerebri could be ascribed to hypercalcemia and resolved after correction of the hypercalcemia with glucocorticoid therapy.…”

Section: Discussionmentioning

confidence: 99%

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

Demirbilek¹,

Alanay²,

Alikaşifoğlu³

et al. 2012

jcrpe

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Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. The clinical expression of the disease is variable. Six forms of HPP are identified according to age at presentation and clinical features. Patients with the infantile form are normal at birth. First symptoms appear within the first 6 months of life. Along with skeletal findings, HPP patients may present with hypercalcemia, seizures, pseudotumor cerebri, and pulmonary insufficiency. Seizures in HPP are refractory to conventional antiepileptic drugs, but are responsive to pyridoxine. Herein, we report a case of HPP who presented with pyridoxine-responsive seizures in the early neonatal period and was found to have hypercalcemia, skeletal demineralization and increased intracranial pressure. Key words: Hypophosphatasia, pyridoxine-responsive seizures, bisphosphonates, alkaline phosphatase, bone resorption, hypercalcemia Conflict of interest:None declared.

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“…7 An association between hypercalcemia due to hypophosphatasia and IIH has been described in case reports. 8,9 In our patients, significant hypercalcemia had been present for several months due to delayed diagnosis. Unfortunately, in these cases, no exact pathomechanism could be identified, but in one patient, IIH resolved immediately after correction of hypercalcemia, whereas in our patients, IIH was recognized in a clinical phase with stable serum calcium levels in the upper normal range for 3 months already.…”

Section: Discussionmentioning

confidence: 70%

Intracranial Hypertension in Siblings with Infantile Hypercalcemia

et al. 2014

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Hypophosphatasia associated with Pseudotumor cerebri and respiratory insufficiency

Cited by 7 publications

References 8 publications

Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report

Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

Intracranial Hypertension in Siblings with Infantile Hypercalcemia

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