The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
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, hyperphospha...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2016-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2016/7645938 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832566928907960320 |
|---|---|
| author | Paria Kashani Madan Roy Linda Gillis Olufemi Ajani M. Constantine Samaan |
| author_facet | Paria Kashani Madan Roy Linda Gillis Olufemi Ajani M. Constantine Samaan |
| author_sort | Paria Kashani |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ebfcf5fe17cd47788ac10e2b230bb45d |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-ebfcf5fe17cd47788ac10e2b230bb45d2025-02-03T01:02:47ZengWileyCase Reports in Medicine1687-96271687-96352016-01-01201610.1155/2016/76459387645938The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?Paria Kashani0Madan Roy1Linda Gillis2Olufemi Ajani3M. Constantine Samaan4Department of Pediatrics, McMaster University, Hamilton, ON, CanadaDepartment of Pediatrics, McMaster University, Hamilton, ON, CanadaDepartment of Pediatrics, McMaster University, Hamilton, ON, CanadaDivision of Neurosurgery, McMaster Children’s Hospital, Hamilton, ON, CanadaDivision of Pediatric Endocrinology, McMaster Children’s Hospital, Hamilton, ON, CanadaA 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.http://dx.doi.org/10.1155/2016/7645938 |
| spellingShingle | Paria Kashani Madan Roy Linda Gillis Olufemi Ajani M. Constantine Samaan The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? Case Reports in Medicine |
| title | The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? |
| title_full | The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? |
| title_fullStr | The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? |
| title_full_unstemmed | The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? |
| title_short | The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? |
| title_sort | association of pseudohypoparathyroidism type ia with chiari malformation type i a coincidence or a common link |
| url | http://dx.doi.org/10.1155/2016/7645938 |
| work_keys_str_mv | AT pariakashani theassociationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT madanroy theassociationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT lindagillis theassociationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT olufemiajani theassociationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT mconstantinesamaan theassociationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT pariakashani associationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT madanroy associationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT lindagillis associationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT olufemiajani associationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink AT mconstantinesamaan associationofpseudohypoparathyroidismtypeiawithchiarimalformationtypeiacoincidenceoracommonlink |