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The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
Paria Kashani1, Madan Roy1, Linda Gillis1
1Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
Insights
This case study highlights a potential link between Pseudohypoparathyroidism Type Ia (PHP-Ia) and Chiari Malformation Type I (CM-I). Early brain MRI screening in PHP-Ia patients may improve neurodevelopmental outcomes.
Area of Science:
- Pediatric Endocrinology
- Neurodevelopmental Disorders
- Genetics
Background:
- Pseudohypoparathyroidism Type Ia (PHP-Ia) is a genetic disorder characterized by resistance to parathyroid hormone, leading to hypocalcemia and hyperphosphatemia.
- Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis are common physical findings in PHP-Ia.
- Developmental delay is a frequent concern in children with PHP-Ia.
Purpose of the Study:
- To report a case of Pseudohypoparathyroidism Type Ia (PHP-Ia) associated with Chiari Malformation Type I (CM-I) and hydrocephalus.
- To investigate the potential association between PHP-Ia and CM-I.
- To emphasize the importance of early neuroimaging in PHP-Ia patients with developmental delay.
Main Methods:
- Case report of a 19-month-old boy with progressive weight gain and medical history of congenital hypothyroidism.
- Clinical examination revealing features of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis.
- Laboratory tests for hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels, along with genetic testing for GNAS gene mutation.
- Brain MRI to investigate developmental delay, revealing Chiari Malformation Type I with hydrocephalus.
Main Results:
- The patient was diagnosed with PHP-Ia due to a GNAS gene mutation.
- A repeat brain MRI revealed Chiari Malformation Type I with hydrocephalus, necessitating neurosurgical intervention.
- Post-intervention, the patient showed improvement in developmental milestones.
- The patient was also diagnosed with growth hormone deficiency.
Conclusions:
- This case suggests a potential association between Chiari Malformation Type I and Pseudohypoparathyroidism Type Ia.
- Further research is needed to confirm if CM-I with hydrocephalus are common in PHP-Ia and to explore potential genetic links.
- A low threshold for brain MRI in PHP-Ia patients, particularly those with persistent developmental delay, is recommended to screen for CM-I.
- Early detection and intervention for CM-I in PHP-Ia patients may enhance neurodevelopmental outcomes and prevent neurosurgical emergencies.
Abstract:
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention. This was followed by improvement in attaining developmental milestones. Recently, he was diagnosed with growth hormone deficiency. This case suggests the potential association of CM-I with PHP-Ia. Larger studies are needed to assess whether CM-I with hydrocephalus are common associations with PHP-Ia and to define potential genetic links between these conditions. We propose a low threshold in performing brain MRI on PHP-1a patients, especially those with persistent developmental delay to rule out CM-I. Early intervention may improve neurodevelopmental outcomes and prevent neurosurgical emergencies.
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