1032 Mixed sleep apnea management in a pediatric patient with Arnold Chiari type 1 and septo-optic dysplasia leading to hypopituitarism
نویسندگان
چکیده
Abstract Introduction Mixed Sleep apnea and Central sleep are commonly noted in a patient with Arnold Chiari Malformation definitive treatment of is surgical decompression. Report case(s) The at the time diagnosis was 7 years old. She had already undergone tonsillectomy adenoidectomy age 4 years. Due to continued Sleep-disordered breathing, PSG done 2016 which showed predominantly mixed central events. MRI revealed 1 malformation cerebellar tonsils extending 6 mm below foramen magnum. also due septo-optic dysplasia hypopituitarism followed pediatric endocrinology on supplementation Desmopressin, Hydrocortisone, Levothyroxine, Somatropin. mother pregnancy substance abuser, incarcerated primary care assumed by patient’s legal guardian. guardian not interested surgery for as she feared long-term outcomes requested alternate options. underwent another split study started CPAP. did tolerate CPAP transitioned BiPAP. During her last clinic visit, compliance improved achieved therapeutic AHI. counseled effects GH untreated regularly Medicine Pediatric Endocrinology. after transitioning BiPAP has responded well apnea. Despite being supplementation, careful monitoring hormone levels Endocrinology symptom control Medicine, shown remarkable improvement. Conclusion secondary responds decompression improvement sleep-disordered breathing. In complicated medical history needing stress dose steroids, candidate surgery, intolerant CPAP, modality good Apnea. Support (if any)
منابع مشابه
Septo-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملVariations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
CONTEXT Loss-of-function mutations in PROK2 and PROKR2 have been implicated in Kallmann syndrome (KS), characterized by hypogonadotropic hypogonadism and anosmia. Recent data suggest overlapping phenotypes/genotypes between KS and congenital hypopituitarism (CH), including septo-optic dysplasia (SOD). OBJECTIVE We screened a cohort of patients with complex forms of CH (n = 422) for mutations ...
متن کاملSepto-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملSepto-optic dysplasia.
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...
متن کاملMonocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia.
This case depicts an unusual presentation of septo-optic dysplasia. A four-year-old female presented with monocular nystagmus and temporal optic disc pallor in her left eye. Despite a normal sized optic nerve head, magnetic resonance imaging (MRI) showed a hypoplastic intraorbital and intracranial left optic nerve in the absence of a septum pellucidum. She was subsequently diagnosed with septo-...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Sleep
سال: 2023
ISSN: ['0302-5128']
DOI: https://doi.org/10.1093/sleep/zsad077.1032