Apnea & Cerebellar Hypoplasia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Apnea, Cerebellar Hypoplasia,

Negated

None

Unsure

None

Possible Causes

Arnold-Chiari Malformation Type 1

Definitions of the different types of Arnold-Chiari malformation are discussed, with sleep apnea presenting as the only symptom. [ncbi.nlm.nih.gov]

hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation [radiopaedia.org]

[…] of central apneas. [mrmjournal.biomedcentral.com]

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Arnold Chiari Malformation

Polysomnography disclosed central and obstructive sleep apneas. During REM sleep apneas were accompanied by hypotension and led to convulsive nonepileptic attacks. [ncbi.nlm.nih.gov]

Type IV is a form a cerebellar hypoplasia. [hon.ch]

[…] structures Hydrocephalus in 50% of cases due to obstruction Chiari IV (very rare) Primary cerebellar hypoplasia or agenesis Epidemiology Prevalence True incidence is estimated [unboundmedicine.com]

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Arnold-Chiari Malformation Type 2

With signs of sleep apnea. You may need a sleep study if you have sleep apnea. Sleep apnea means that you stop and start breathing during sleep. [hopkinsmedicine.org]

Type IV is a form a cerebellar hypoplasia. [hon.ch]

Medical issues may involve management of neurogenic bowel and bladder, neonatal feeding difficulties, respiratory failure, and apnea. [3] As with any form of surgery, there [rarediseases.info.nih.gov]

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Severe Neonatal-Onset Encephalopathy with Microcephaly

Apnea MedGen UID: 2009 • Concept ID: C0003578 • Sign or Symptom A transient absence of spontaneous respiration. [ncbi.nlm.nih.gov]

hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation [mrineonatalbrain.com]

[…] disturbances · Causes decr brain glucose, incr lactate, excitatory AAs, low phosphocreatine · Common seizure types: o Subtle – eye deviation/blinking/staring, mouth/tongue movts, apnea [emilytam.com]

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Aprosencephaly and Cerebellar Dysgenesis

Intermittent episodes of apnea prompted MR imaging at 3 weeks of age. [ajnr.org]

This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human). [en.wikipedia.org]

(see Sleep Apnea, Central) Centronuclear Myopathy: (see Myopathies, Structural, Congenital) Centronuclear Myopathy: (see Myopathies, Structural, Congenital) Cenuriasis: [drhuldaclarkzappers.wordpress.com]

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Central Sleep Apnea

[…] to develop an apnea syndrome. [symptoma.com]

The patient’s brain MRI revealed corpus callosum agenesis, pontine, and cerebellar hypoplasia. 7 To our knowledge, this is the first case of Vici syndrome featuring CSA. [pediatrics.aappublications.org]

[…] give the signal to inhale, causing the individual to miss one or more cycles of breathing primary central sleep apnea central sleep apnea syndrome APNEA, CENTRAL SLEEP Sleep [wikidata.org]

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Ondine Syndrome

"[Central Sleep Apnea (Ondine's Curse Syndrome) in Medullary Infarction]." [unboundmedicine.com]

She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. [tandfonline.com]

Ondine's curse syndrome primarily refers to cases with congenital central alveolar hypoventilation, but the term can also be used for acquired cases and implies central sleep apnea [ncbi.nlm.nih.gov]

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Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

Apnea, and Infant central apnea. [books.google.com]

[…] vermis hypoplasia Frontal bossing Lissencephaly Holoprosencephaly Poor head control Cerebellar cyst Buphthalmos Renal cortical cysts Hypertelorism Cryptorchidism Neoplasm [mendelian.co]

Clinical Symptoms Feeding difficulties Failure to thrive Intrauterine growth restriction (IUGR) Severe/profound learning difficulties Recurrent infections Absences Seizures Apneas [bohring-opitz.org]

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Haddad Syndrome

Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. [ncbi.nlm.nih.gov]

Context: Dandy-Walker syndrome (DWS) or malformation (DWM) characterizes a hereditary abnormality categorized via agenesis or hypoplasia of the cerebellar vermis, cystic dilation [semanticscholar.org]

Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. Am J Med Genet 2003; 118A: 388-390. 32. [indianpediatrics.net]

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Autosomal Recessive Primary Microcephaly Type 10

The corpus callosum of the brain is often undeveloped (called agenesis of the corpus callosum ) and patients are known to have seizures and apnea. [en.wikipedia.org]

hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells [mendelian.co]

[…] equinovarus Dysphagia Developmental stagnation Hypoventilation Poor eye contact Pruritus Milia Hypoplasia of the corpus callosum Arrhythmia Pneumonia Hypoplasia of the brainstem Apnea [mendelian.co]

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Trisomy 18

Physicians should keep epileptic apneas in mind when treating apneas in neonates with trisomy 18. [ncbi.nlm.nih.gov]

In addition, we investigated which parameter would be useful for cerebellar hypoplasia in trisomy 18. [ncbi.nlm.nih.gov]

KEYWORDS: cerebellar hypoplasia; fetus; neonate; trisomy 18 [ncbi.nlm.nih.gov]

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Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

Sleep apnea. Arnold-Chiari type II Mainly signs of brainstem dysfunction such as Swallowing and feeding difficulties. Stridor/difficulty in breathing. Apnea. Weak cry. [lecturio.com]

Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly [rarediseases.info.nih.gov]

[…] hyperinsulinemic hypoglycemia Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia AHDC1-related intellectual disability-obstructive sleep apnea-mild [sanfordresearch.org]

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Sudden Infant Death Syndrome

All five infants developed heavy snoring at night and symptoms of obstructive sleep apnea syndrome. [ncbi.nlm.nih.gov]

On the basis of the anatomic connections of the human arcuate nucleus and of neurons in homologous positions in animals, we postulate that arcuate hypoplasia may lead to death [ncbi.nlm.nih.gov]

Although obstructive and central apnea occurred together as mixed apnea, both types of apnea were seen independently of each other. [ncbi.nlm.nih.gov]

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Joubert Syndrome

The most common features are lack of muscle control (ataxia), abnormal breathing patterns (hyperapnea), sleep apnea, abnormal eye and tongue movements and low muscle tone. [rarediseases.org]

Some individuals with Cogan syndrome also have cerebellar vermis hypoplasia, with evidence of the molar tooth sign. [centogene.com]

He had delayed motor and language development with episodic hyperpnea–apnea spells and hypotonia in infancy. [dovepress.com]

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Hereditary Hyperekplexia

During attacks of hypertonia and apnea, the limbs and head may be flexed towards the trunk in order to dissipate the symptoms. [en.wikipedia.org]

hypoplasia and distinctive facial appearance XL 28 42 PCDH19 Epileptic encephalopathy, early infantile XL 116 200 PGK1 Phosphoglycerate kinase 1 deficiency XL 16 26 PHF6 [blueprintgenetics.com]

Recurrent apnea, feeding difficulties, choking, and sudden death are reported in some cases. [pediatricneurologybriefs.com]

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Polycystic Ovary Syndrome

The patient was found, upon further evaluation, to have significant obstructive sleep apnea, a condition that has been linked to the development and/or worsening of heart [ncbi.nlm.nih.gov]

Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: D-CHRAMPS syndrome. [jpma.org.pk]

Signs you have sleep apnea: You snore loudly and feel tired even after a full night’s sleep. Watch out for these other symptoms of sleep apnea. [rd.com]

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Dandy-Walker Syndrome

Abstract Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial [ncbi.nlm.nih.gov]

hypoplasia, hydrocephalus, and posterior fossa cyst formation. [medical-dictionary.thefreedictionary.com]

apneas). The clinical picture in older children involves delayed motor development with poor coordination and gait control. [accessanesthesiology.mhmedical.com]

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Hallermann-Streiff Syndrome

Overnight polysomnography confirmed severe obstructive sleep apnea. [ncbi.nlm.nih.gov]

hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Choanal atresia Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of [rarediseases.info.nih.gov]

hypoplasia Choanal atresia Clinodactyly of the 5th finger Congestive heart failure Cryptorchidism Glaucoma Hypothyroidism Intellectual disability Microcephaly Myopia Nystagmus [dovemed.com]

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Joubert Syndrome Type 10

Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

A combination of midline cerebellar vermis hypoplasia, deepened interpeduncular fossa, and thick, elongated superior cerebellar peduncles gives to the axial view of the midbrain [scielo.br]

Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. [scielo.br]

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Joubert Syndrome Type 5

Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

A combination of midline cerebellar vermis hypoplasia, deepened interpeduncular fossa, and thick, elongated superior cerebellar peduncles gives to the axial view of the midbrain [scielo.br]

Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. [scielo.br]

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Joubert Syndrome Type 8

Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor [ghr.nlm.nih.gov]

A combination of midline cerebellar vermis hypoplasia, deepened interpeduncular fossa, and thick, elongated superior cerebellar peduncles gives to the axial view of the midbrain [scielo.br]

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Arnold-Chiari Malformation Type 3

hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation [radiopaedia.org]

Dizziness and problems with balance and coordination Swallowing difficulties Sleep apnea Most children born with type II Chiari malformation have hydrocephalus. [webmd.com]

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Joubert Syndrome Type 13

Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor [ghr.nlm.nih.gov]

A combination of midline cerebellar vermis hypoplasia, deepened interpeduncular fossa, and thick, elongated superior cerebellar peduncles gives to the axial view of the midbrain [scielo.br]

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Joubert Syndrome Type 3

/ sleep apnea - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - [csbg.cnb.csic.es]

AB - Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. [rug.nl]

Breathing abnormalities like hyperapnea and apnea episodes improves with age, and is most pronounced in the neonatal age. [sjkdt.org]

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Dysequilibrium Syndrome

Pregnancy Trauma 984 Procedural Sedation 990 Pseudotumor Cerebri 996 Psychosis Acute 1002 Seizure Adult 1004 Sepsis 1010 Shock 1016 Sickle Cell Disease 1022 Sinusitis 1024 Sleep Apnea [books.google.de]

From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar [en.wikipedia.org]

Clinical features include truncal ataxia, developmental delays, and episodic hyperpnea or apnea and/or atypical eye movements or both. [ncbi.nlm.nih.gov]

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Acrocallosal Syndrome

[…] imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea [ncbi.nlm.nih.gov]

We report on a case of acrocallosal syndrome with dysmorphic features, macrocephaly, duplicated hallux, agenesis of corpus callosum and unilateral cerebellar hypoplasia. [paedcro.com]

The third patient was severely affected and died at age 7 days because of persistent apnea. [ncbi.nlm.nih.gov]

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Congenital Merosin-Positive Muscular Dystrophy

Patients often shows signs of nocturnal hypoventilation and central apnea. Respiratory failure may develop. Some patients never develop walking. [academlib.com]

The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months. [ncbi.nlm.nih.gov]

MIM *254210 17p13 Neonatal hypotonia Easy fatigability Recurrent aspiration Feeding difficulty Cyanosis and apnea EMG repetitive motor nerve stimulation shows repetitive [mafiadoc.com]

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PHACE Syndrome

Rarely, temperature instability, apnea, tremor, opisthotonus and, in later years, migraine headaches have been reported to be associated with PHACE. [dermatologyadvisor.com]

We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma. [ncbi.nlm.nih.gov]

[…] valve 大動脈弁 aortic valve replacement大動脈弁置換［術］ aortic valve sclerosis大動脈弁硬化［症］ aortitis大動脈炎 aortitis syndrome大動脈炎症候群 aortography大動脈造影［法］ apex［心］尖 apex beat心尖拍動 apical心尖［部］　【形】 apnea [tokyo-med.ac.jp]

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Hoyeraal-Hreidarsson Syndrome

SYNDROME; PTHS The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea [mendelian.co]

We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay. [ncbi.nlm.nih.gov]

Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and [ncbi.nlm.nih.gov]

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CHARGE Syndrome

[…] sleep apnea appears to be prevalent in children with CHARGE syndrome. [ncbi.nlm.nih.gov]

Finally, we report cerebellar vermis hypoplasia in 35% of CHARGE syndrome patients with a proven CHD7 mutation. [ncbi.nlm.nih.gov]

Five patients had cerebellar vermis hypoplasia (5/17, 29.4%) with no clinical symptoms or signs of cerebellar dysfunction. [ncbi.nlm.nih.gov]

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