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Hormone Research in Paediatrics 2023The link between the effects of recombinant human growth hormone (rhGH) therapy in patients with growth hormone deficiency (GHD) and Chiari malformation type I (CM-1) is...
BACKGROUND
The link between the effects of recombinant human growth hormone (rhGH) therapy in patients with growth hormone deficiency (GHD) and Chiari malformation type I (CM-1) is controversial.
SUMMARY
We report the case of a patient with an unusual association of GHD due to ectopic posterior pituitary and CM-1. Our patient developed a headache and worsening of CM-1 after the initiation of rhGH therapy. Following an atlo-occipital decompression surgery, the patient was able to resume therapy with a marked growth improvement. Based on this observation, we provide a systematic review of the current literature about these two pathologies.
KEY MESSAGES
A careful follow-up of all patients with CM-1 treated with GH is mandatory, paying particular attention to the appearance of any neurological signs and symptoms.
Topics: Humans; Arnold-Chiari Malformation; Human Growth Hormone; Dwarfism, Pituitary; Recombinant Proteins
PubMed: 36001954
DOI: 10.1159/000526617 -
PloS One 2022Morphometric assessment of Chiari malformation type I (CMI) is typically performed on a midsagittal MRI. However, errors arising from an imprecise selection of the...
INTRODUCTION
Morphometric assessment of Chiari malformation type I (CMI) is typically performed on a midsagittal MRI. However, errors arising from an imprecise selection of the midsagittal plane are unknown. We define absolute parasagittal error as the absolute difference between morphometric measurements at the midsagittal and parasagittal planes. Our objective was to determine the absolute parasagittal error at various lateral distances for morphometric parameters commonly used in CMI research.
METHODS
Sagittal T1-weighted MRI scans of 30 CMI adult female subjects were included. Image sets were evaluated to assess 14 CMI morphometric parameters in the midsagittal plane and four parasagittal planes located 1 and 2 mm lateral (left and right). Comparisons between measurements at the midsagittal and parasagittal planes were conducted to determine the mean individual absolute and mean group parasagittal errors for all 14 parameters.
RESULTS
The mean individual absolute parasagittal error was > 1 unit (1 mm for lengths and 1 degree for angles) for 9/14 parameters within a lateral distance of 2 mm. No significant group parasagittal errors were seen in 14/14 parameters, including tonsillar position within a lateral distance of 2 mm.
CONCLUSION
Our results show that the absolute errors for imprecise midsagittal plane selection may impact the clinical assessment of an individual patient. However, the impact on group measurements, such as in a research setting, will be minimal.
Topics: Adult; Arnold-Chiari Malformation; Female; Humans; Magnetic Resonance Imaging
PubMed: 35947605
DOI: 10.1371/journal.pone.0272725 -
Journal of Clinical Sleep Medicine :... Dec 2022Symptomatic progression of Chiari malformation type 1 (CM-1) can be difficult to recognize in children because of the slow progressive nature of the disorder and highly...
UNLABELLED
Symptomatic progression of Chiari malformation type 1 (CM-1) can be difficult to recognize in children because of the slow progressive nature of the disorder and highly varied neurological symptoms. We present a case of an obese 11-year-old girl seeking an evaluation of snoring. Progressive social impairment and academic difficulties were also endorsed. The past medical history was remarkable for absence seizures at an earlier age with an incidental finding of CM-1 on brain imaging. No headaches, vision changes, or swallowing dysfunction were endorsed in the acute presentation. The patient underwent a polysomnogram, which revealed the unexpected finding of severe central sleep apnea. Magnetic resonance imaging of the brain revealed further herniation of the cerebellar tonsils and a cervical syrinx, which was not present on initial imaging. Posterior fossa decompression resulted in the successful resolution of symptoms. It was postulated that the social impairment and academic problems were manifestations of CM-1. There are no current standard protocols for disease surveillance of pediatric CM-1. Annual polysomnograms may serve as a useful tool.
CITATION
Kanney ML, Spear J, Hsu DP. Social impairment and snoring: a unique presentation of pediatric Chiari I malformation. . 2022;18(12):2867-2870.
Topics: Female; Child; Humans; Snoring; Decompression, Surgical; Arnold-Chiari Malformation; Magnetic Resonance Imaging; Brain
PubMed: 35946419
DOI: 10.5664/jcsm.10220 -
Arquivos Brasileiros de Oftalmologia 2022
Topics: Arnold-Chiari Malformation; Humans; Magnetic Resonance Imaging
PubMed: 35920456
DOI: 10.5935/0004-2749.2022-0150 -
Clinical Medicine (London, England) Jul 2022
Topics: Arnold-Chiari Malformation; Headache; Humans; Magnetic Resonance Imaging
PubMed: 35882486
DOI: 10.7861/clinmed.2022-0243 -
Journal of Integrative Neuroscience May 2022Chiari I malformation is defined as caudal displacement of the cerebellar tonsils into the foramen magnum. The most commonly associated finding is cervical...
INTRODUCTION
Chiari I malformation is defined as caudal displacement of the cerebellar tonsils into the foramen magnum. The most commonly associated finding is cervical syringomyelia. The most common presenting symptom is occipital and upper cervical pain. The incidence of syringomyelia is between 30% and 70%. Surgery is recommended for symptomatic patients. The main purpose of the study is to present the data of children with Chiari type I malformation that were treated surgically in low-volume center and to describe some atypical presentations in children.
MATERIALS AND METHODS
At University Medical Centre Maribor, Slovenia, we performed a retrospective study of children with Chiari type I malformation that were treated surgically in the period from 2012 until 2021. The indication for surgery was symptomatic Chiari type I malformation. Suboccipital decompression with laminectomy of at least C1 (in one case also C2) with splitting of dura or duraplasty was performed. In a few cases coagulation of both tonsillar tips was necessary to achieve sufficient decompression and restoration of adequate cerebrospinal fluid (CSF) flow.
RESULTS
Ten children (under 18 years of age) underwent surgery for Chiari I malformation. Four patients had atypical presentation. In nine patients there was improvement after surgery. Complication rate was zero with no revision surgery. In one case suboccipital headache persisted. In all cases with preoperative syringomyelia it improved after surgery. Scoliosis improved in two out of three cases. There was no mortality after the procedure.
DISCUSSION
When patients with Chiari I malformation become symptomatic, it is recommended to perform surgery as soon as possible. Comparing the techniques; dura-splitting technique has advantages of lesser operation duration, lesser intraoperative bleeding and lower complication rates than duraplasty.
CONCLUSIONS
The majority of patients with Chiari I malformation improve after surgery. Surgical procedure is safe with very low morbidity and mortality. Surgical technique must be an individualized patient tailored choice.
Topics: Adolescent; Arnold-Chiari Malformation; Child; Decompression, Surgical; Dura Mater; Humans; Magnetic Resonance Imaging; Retrospective Studies; Syringomyelia; Treatment Outcome
PubMed: 35864752
DOI: 10.31083/j.jin2104100 -
Neurology India 2022Surgical outcome predictive models for Chiari malformations (CM) which are applicable to all age groups and simple enough to use on outpatient basis are lacking.
BACKGROUND
Surgical outcome predictive models for Chiari malformations (CM) which are applicable to all age groups and simple enough to use on outpatient basis are lacking.
OBJECTIVE
The aim of this study was to develop and validate a preoperative index for predicting long-term outcomes in Chiari 1 (CM1) and Chiari 0 (CM0) malformations.
MATERIALS AND METHODS
It was a single-institution, ambidirectional, cohort study from 2014 to 2019, having patients between 5 to 70 years. Outcome was assessed using Chicago Chiari outcome score (CCOS) over 2 years follow-up. Preoperative clinical and radiological factors were analyzed using Chi-square test and Mann Whitney U test, in relation to CCOS and those attaining P value ≤0.05, were used to develop model - Chiari Outcome Predictive Index (COPI). COPI was internally validated using 10-fold cross-validation and c-statistic for discrimination.
RESULTS
A total of 88 patients (66 in development and 22 in validation cohort) were included in the study. Outcome was negatively associated with presence of motor, sensory or cranial nerve symptoms, poor functional status, basilar invagination, and tonsillar descent. It was positively associated with shorter duration of presenting symptom (<9 months) and syrinx diameter <6 mm. COPI predicted CCOS with 91.1% accuracy (10-fold cross-validation). It had excellent discrimination for improved outcome (c = 0.968 in development and 0.976 in validation cohort), at threshold index of -1.
CONCLUSIONS
COPI is simple tool that can be administered in outpatient setting. It can facilitate evidence-based preoperative counseling of patients, to help them develop reasonable expectations regarding surgical outcomes.
Topics: Humans; Arnold-Chiari Malformation; Cohort Studies; Decompression, Surgical; Magnetic Resonance Imaging; Retrospective Studies; Syringomyelia; Treatment Outcome
PubMed: 35864617
DOI: 10.4103/0028-3886.349662 -
Frontiers in Endocrinology 2022PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with locus genetic or...
PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define overlapping phenotypes based on their molecular etiology. iPPSD1 is associated with variants and variable phenotypes including ossification anomalies and primary failure of tooth eruption but no endocrine disorder. Here we report on a 10-month-old child born from consanguineous parents, who presented with mild neurodevelopmental delay, seizures, enlarged fontanelles, round face, and bilateral clinodactyly. Hand x-rays showed diffuse delayed bone age, osteopenia, short metacarpal bones and cone-shaped distal phalanges. A diagnosis of PTH resistance was made on the basis of severe hypocalcemia, hyperphosphatemia, elevated PTH and normal vitamin D levels on blood sample. The patient was treated with calcium carbonate and alfacalcidol leading to rapid bio-clinical improvement. Follow-up revealed multiple agenesis of primary teeth and delayed teeth eruption, as well as Arnold-Chiari type 1 malformation requiring a ventriculoperitoneal shunt placement. gene analysis showed no pathogenic variation, but a likely pathogenic homozygous substitution c.723C>G p.(Asp241Glu) in gene was found by trio-based whole exome sequencing. We studied the deleterious impact of the variant on the protein conformation with bioinformatics tools. In conclusion, our study reports for the first time PTH resistance in a child with a biallelic mutation, extending thereby the clinical spectrum of iPPSD1 phenotypes.
Topics: Humans; Hyperphosphatemia; Hypocalcemia; Parathyroid Hormone; Parathyroid Hormone-Related Protein; Pseudohypoparathyroidism
PubMed: 35846276
DOI: 10.3389/fendo.2022.928284 -
Asian Spine Journal Feb 2023Retrospective cohort.
Type I Arnold Chiari Malformation with Syringomyelia and Scoliosis: Radiological Correlations between Tonsillar Descent, Syrinx Morphology and Curve Characteristics: A Retrospective Study.
STUDY DESIGN
Retrospective cohort.
PURPOSE
The current study was planned to evaluate deformity characteristics, assess relationship between morphology of syrinx/Arnold Chiari malformation (ACM) and deformity, analyze effect of posterior fossa decompression (PFD), and evaluate outcome.
OVERVIEW OF LITERATURE
Scoliosis in ACM-I and syringomyelia (SM) is uncommon, and deformity characteristics differ from those seen in idiopathic scoliosis.
METHODS
Data regarding patients, who underwent PFD for ACM-I presenting with SM and scoliosis between January 2009 and December 2018, were retrospectively collected. Only patients with 2-year follow-up were included. Sagittal/coronal deformity and sagittal spinopelvic parameters were examined. Symmetry and extent of tonsillar descent, as well as morphology (configuration/variation) and extent of syrinx were determined.
RESULTS
A total of 42 patients (20 females; age: 14.2±5.8 years) were included; 35 patients (83.3%) had atypical curves. Mean preoperative coronal Cobb was 57.7°±20.9°; and 12 (28.6%) had significant coronal imbalance. Tonsillar descent was classified as grade 1, 2, and 3 in 16 (38.1%), 11 (26.2%), and 15 (35.7%) patients; 35 patients (83.3%) had asymmetric tonsillar descent; 17 (40.4%), 3 (7.1%), 16 (38.1%), and 6 (14.4%) had circumscribed, moniliform, dilated, and slender syrinx patterns; and 9 (21.4%), 12 (28.6%), and 21 (50%) of syrinx were right-sided, left-sided, and centric. There was no significant relationship between side of tonsillar dominance (p =0.31), grade of descent (p =0.30), and convexity of deformity. There was significant association between side of syrinx and convexity of scoliosis (p =0.01). PFD was performed in all, and deformity correction was performed in 23 patients. In curves ≤40°, PFD alone could stabilize scoliosis progression (p =0.02). There was significant reduction in syrinx/cord ratio following PFD (p <0.001).
CONCLUSIONS
ACM-I+SM patients had atypical curve patterns in 83% of cases, and the side of syrinx deviation correlates with scoliosis convexity. Syrinx shrinks significantly following PFD. PFD may not stabilize scoliosis in curves >40°.
PubMed: 35785912
DOI: 10.31616/asj.2021.0483 -
Psychiatria Danubina 2022
Topics: Adolescent; Arnold-Chiari Malformation; Conversion Disorder; Dissociative Disorders; Humans; Magnetic Resonance Imaging
PubMed: 35772149
DOI: 10.24869/psyd.2022.318