Visual disturbances as a presenting feature of pseudohypoparathyroidism

Maheshwari, Rushikesh; Rani, Radha P; Prasad, Rajendra; Reddy, Karthik T. S.; Reddy, Amaresh P

doi:10.4103/2230-8210.119577

Cited by 9 publications

(6 citation statements)

References 2 publications

(1 reference statement)

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“…Other ectopic depositions of calcium and phosphorus occur in the eyes, which lead to cataracts (peripheral lenticular opacities). Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8,185–188 .…”

Section: Managementmentioning

confidence: 98%

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

et al. 2018

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This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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Section: Managementmentioning

confidence: 98%

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

et al. 2018

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“…So far, brain calcifications have not been described in patients with PPHP or POH or those with an alteration in the PRKAR1A or PDE4D genes [13, 14, 38-41]. Ectopic depositions of calcium and phosphorus may occur in the eyes, leading to posterior subcapsular cataract or corneal opacities [41-45]. A brain CT scan is indicated only in the case of neurological manifestations, while systematic and regular ophthalmologic examination is recommended to diagnose or manage cataracts.…”

Section: Resistance To Pthmentioning

confidence: 99%

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

et al. 2020

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Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and readyto-use tool to help physicians and patients outlining relevant interventions and their timing. A lifelong coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care.

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“…Bilateral disc swelling and vision improved within 2 months in our patient following treatment with calcium and vitamin D supplements. Several cases of hypocalcemia-induced optic disc edema have been reported previously showing improvement with calcium therapy [ 14 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

Ullah,

Zafar,

Ishaq

et al. 2024

J Med Case Reports

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Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system. Case presentation This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel–Feil syndrome, with the typical clinical triad symptoms of Klippel–Feil syndrome, along with Sprengel’s deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained. Conclusion This case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel–Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

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Visual disturbances as a presenting feature of pseudohypoparathyroidism

Cited by 9 publications

References 2 publications

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

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