Hereditary hypophosphatemic rickets and craniosynostosis

Abstract Background Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatment, and compare the characteristics with those of children without craniosynostosis. Methods and patients An observational and retrospective cohort study was conducted. Clinical notes and cranial images were reviewed. Out of 96 children, only the 50 patients who had skull images were included. Results Out of 50 patients, 26 (15 males) had craniosynostosis (52%). No differences were observed in birth size, age, height, body proportions, alkaline phosphatase, serum phosphate, or percent tubular reabsorption of phosphate at first appointment among children with or without craniosynostosis. Among patients with craniosynostosis, dolichocephaly was prevalent. The sagittal suture was affected in all patients with craniosynostosis, with 19 of 26 children (73%) affected with isolated scaphocephaly. Pan-sutural craniosynostosis was present in 7 children (27%). None of the children had microcephaly, 7 of them presented macrocephaly and, in the remaining subjects, head circumference was normal. Five patients had undergone at least 1 cranial remodeling surgery. One patient with craniosynostosis was diagnosed with a Chiari I malformation. Molecular characterization of PHEX gene was performed in 14 cases. Conclusions Craniosynostosis is an underdiagnosed complication of hypophosphatemic rickets. Many patients with normal head size and growth may go undiagnosed, thus it is important to consider this association for early diagnosis and possible surgical treatment. A multidisciplinary approach is necessary for a correct long-term follow-up.

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Cerebellar tonsillectomy with suboccipital decompression and duraplasty by small incision for chiari i malformation with syringomyelia: long term follow-up of 76 surgically treated cases

Turkish Neurosurgery ◽

10.5137/1019-5149.jtn.4634-11.1 ◽

2011 ◽

Author(s):

Junpeng Ma ◽

Chao You ◽

Haifeng Chen ◽

Siqing Huang ◽

Chengcheng Ieong

Keyword(s):

Chiari I Malformation ◽

Small Incision ◽

Long Term Follow Up ◽

Chiari I ◽

Suboccipital Decompression

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Post-Operative Dysphagia in Anterior Cervical Discectomy and Fusion

Annals of Otology Rhinology & Laryngology ◽

10.1177/00034894211015582 ◽

2021 ◽

pp. 000348942110155

Author(s):

Leonard Haller ◽

Khush Mehul Kharidia ◽

Caitlin Bertelsen ◽

Jeffrey Wang ◽

Karla O’Dell

Keyword(s):

Risk Factors ◽

Medical Records ◽

Assessment Tool ◽

Demographic Data ◽

Anterior Cervical Discectomy ◽

Cervical Discectomy ◽

Long Term Follow Up

Objective: We sought to identify risk factors associated with long-term dysphagia, characterize changes in dysphagia over time, and evaluate the incidence of otolaryngology referrals for patients with long-term dysphagia following anterior cervical discectomy with fusion (ACDF). Methods: About 56 patients who underwent ACDF between May 2017 to February 2019 were included in the study. All patients were assessed for dysphagia using the Eating Assessment Tool (EAT-10) survey preoperatively and late postoperatively (≥1 year). Additionally, 28 patients were assessed for dysphagia early postoperatively (2 weeks—3 months). Demographic data, medical comorbidities, intraoperative details, and post-operative otolaryngology referral rates were collected from electronic medical records. Results: Of the 56 patients enrolled, 21 patients (38%) had EAT-10 scores of 3 or more at long-term follow-up. None of the demographics, comorbidities, or surgical factors assessed were associated with long-term dysphagia. Patients who reported no long-term dysphagia had a mean EAT-10 score of 6.9 early postoperatively, while patients with long-term symptoms had a mean score of 18.1 ( P = .006). Of the 21 patients who reported persistent dysphagia symptoms, 3 (14%) received dysphagia testing or otolaryngology referrals post-operatively. Conclusion: Dysphagia is a notable side effect of ACDF surgery, but there are no significant demographics, comorbidities, or surgical risk factors that predict long-term dysphagia. Early postoperative characterization of dysphagia using the EAT-10 questionnaire can help predict long-term symptoms. There is inadequate screening and otolaryngology follow-up for patients with post-ACDF dysphagia.

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Primary Pulmonary Pleomorphic Adenoma

Archives of Pathology & Laboratory Medicine ◽

10.5858/2003-127-0621-pppa ◽

2003 ◽

Vol 127 (5) ◽

pp. 621-622

Author(s):

Keng Leong Ang ◽

Venkata Ramana Dhannapuneni ◽

William Ellis Morgan ◽

Irshad Nabi Soomro

Keyword(s):

Pleomorphic Adenoma ◽

Regulatory Gene ◽

Proliferation Index ◽

Complete Excision ◽

Long Term Follow Up ◽

Uncommon Condition ◽

P16 Ink4a

Abstract Primary pleomorphic adenoma of the lung is an uncommon condition. We present a case of primary pulmonary pleomorphic adenoma and its immunohistologic features. The presence of immunoreactivity to both anticytokeratin and antivimentin antibodies for its epithelial components is suggestive of a primary pulmonary lesion. Its high proliferation index and its immunoreactivity to tumor regulatory gene p16(INK4A) are features that, to our knowledge, have not been reported previously. They may have a role in the frequent recurrence of these tumors many years after their apparently complete excision. Detailed genetic investigation and long-term follow-up of this rare tumor will aid in the characterization of its biologic profile.

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Hypophosphatemic rickets: results of a long-term follow-up

Pediatric Nephrology ◽

10.1007/s00467-005-2077-4 ◽

2005 ◽

Vol 21 (2) ◽

pp. 230-234 ◽

Cited By ~ 14

Author(s):

Maria Helena Vaisbich ◽

Vera H. Koch

Keyword(s):

Hypophosphatemic Rickets ◽

Long Term Follow Up

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Long-term follow up of feline leukemia virus infection and characterization of viral RNA loads using molecular methods in tissues of cats with different infection outcomes

Virus Research ◽

10.1016/j.virusres.2014.12.025 ◽

2015 ◽

Vol 197 ◽

pp. 137-150 ◽

Cited By ~ 24

Author(s):

A. Katrin Helfer-Hungerbuehler ◽

Stefan Widmer ◽

Yvonne Kessler ◽

Barbara Riond ◽

Felicitas S. Boretti ◽

...

Keyword(s):

Virus Infection ◽

Leukemia Virus ◽

Molecular Methods ◽

Viral Rna ◽

Feline Leukemia Virus ◽

Long Term Follow Up

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In vitro characterization of commercial factor VIII concentrates: Long-term follow-up

Blut Zeitschrift für die gesamte Blutforschung ◽

10.1007/bf00320384 ◽

1984 ◽

Vol 49 (1) ◽

pp. 53-59 ◽

Cited By ~ 1

Author(s):

C. Miyashita ◽

P. Hellstern ◽

M. K�hler ◽

G. Blohn ◽

E. Wenzel

Keyword(s):

Factor Viii ◽

In Vitro Characterization ◽

Long Term Follow Up ◽

Factor Viii Concentrates

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X-Linked Hypophosphatemic Rickets: Report of a Novel PHEX Mutation and Cinacalcet as Adjuvant Therapy in the Mineral Metabolism Control

Modern Rheumatology Case Reports ◽

10.1093/mrcr/rxab031 ◽

2021 ◽

Author(s):

Daniela Cavaco ◽

Pedro Amaro ◽

Joana Simões-Pereira ◽

Maria Conceição Pereira

Keyword(s):

Mineral Metabolism ◽

Bone Fragility ◽

Hypophosphatemic Rickets ◽

Heterozygous Mutation ◽

Tertiary Hyperparathyroidism ◽

Term Administration ◽

Phex Gene ◽

Serum Pth

Abstract X-linked hypophosphatemic rickets (XLH) is a rare disease caused by a mutation in the PHEX gene, located on the X chromosome. This gene encodes the phosphate regulating endopeptidase, and its inactivation leads to increased levels of circulating phosphatonins responsible for renal phosphate loss. The treatment of XLH is still carried out with long-term administration of phosphate and calcitriol, which can be complicated by hyperparathyroidism, nephrocalcinosis, renal failure and hypertension. We describe the case of a four-decades follow-up patient with XLH. When she was diagnosed, at 19, due to bone pain and deformities, she was put on therapy with phosphorus and cholecalciferol. Despite the clinical improvement, serum phosphorus remained difficult to control. At the age of 44, she developed tertiary hyperparathyroidism and was submitted to parathyroidectomy. Five years later, parathyroid hyperfunction recurred. This time, cinacalcet was started, 30 mg alternating with 60 mg/day. Currently, she is 59 years-old and remains with controlled mineral metabolism. The genetic study of this patient revealed a nonsense heterozygous mutation (c.501G> A) in PHEX gene that was not previously described. In this case, the off-label use of cinacalcet resulted in the normalization of serum PTH and phosphorus levels, eliminated recurrent secondary hyperparathyroidism, which aggravates the bone fragility inherent to XLH and prevented a new parathyroidectomy. This report also adds important information to the genetic basis of XLH with the identification of a new nonsense mutation of the PHEX gene.

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