Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two children complaining of sleep apnea presented with brain stem gliomas. In the early stage of their illness, neurological disorders were too subtle to be recognized as significant by the physicians or to be noted by the parents. Case 1 experienced an episode of unsteady gait and weakness in the bilateral arms, at the age of 5. When it recurred after 7 years of remission, the predominant symptom was sleep apnea. Case 2 exhibited nasality of speech as the earliest sign of this illness very early in his life, presumably 5 years before the diagnosis of brain stem glioma. A slight sleep apnea which developed afterwards did not draw attention of the physicians because no neurological signs other than paralyses of the bilateral soft palates were present. MRIs of the both cases revealed diffuse, infiltrating lesions in the pons, the medulla oblongata and the upper cervical spinal cord. Both cases shared some features: (1) diagnostic delay of several years from the first symptom; (2) the main lesion in the medulla oblongata, where important structures for respiratory control are identified; (3) infiltrative growth patterns in the MRI of the tumor, which might account for the uncommon clinical courses.
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PMID:Pediatric brain stem gliomas with the predominant symptom of sleep apnea. 888 7

The periodic limb movements (PLM) are defined as stereotyped, periodic movements of the legs and/or upper limbs during sleep. The patient exhibits dorsifilexion of the ankle and extension of the big toe with occasional flexion of the knee and hip. PLM originally was described as "nocturnal myoclonus" by Symonds in 1953. Recently, the term "nocturnal myoclonus" has been replaced with PLM, because the movements are slower than true myoclonic movement. The appearance of PLM was reported in sleep apnea syndrome, delayed sleep phase syndrome, narcolepsy, spinal cord tumor, diabetes mellitus and uremia. The prevalence of PLM statistically increase with age. Patients with PLM show excessive daytime sleepiness or insomnia. Several reports show the difficulty recognizing periodic limb movement disorder (PLMD) without polysomnography (PSG). The diagnosis of PLMD is established only by PSG.
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PMID:[Periodic limb movement disorder]. 950 40

We determined the treatment modality of hemangioblastoma of the brain stem on the bases of our two cases and 31 cases searching from the literature since 1960 which were treated surgically. Hemangioblastomas of the brain stem were categorized according to one of three locations: hemangioblastoma of the fourth ventricle attached to the floor of the ventricle (Type A), hemangioblastoma of the fourth ventricle partially embedded in the floor of the ventricle (Type E), and intramedullary hemangioblastoma of the medulla oblongata (Type I); and were evaluated their clinical features including the operative mortality and morbidity of each location. In our two cases of Type I hemangioblastoma, Case 1, removed partially, died due to sleep apnea and Case 2 lead to normal school life after hemangioblastomas were removed radically. In our review of the 33 surgically-treated cases, radical excision was carried out in 29 cases (87.9%). The mortality was 24.2% overall; that of Type A was 25%, Type E was 28.6%, and Type I was 14.3%. In terms of postoperative mortality, the location of the hemangioblastoma was irrelevant and radical excision was much better than partial removal. Hemangioblastomas of the brain stem could be removed radically by meticulous dissection of the tumor on distinct cleavage, even in cases of intramedullary location. Microsurgical dissection of medullary hemangioblastomas with low morbidity is feasible and prudent postoperative care is mandatory to reduce the operative mortality and morbidity.
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PMID:Intramedullary hemangioblastoma of the medulla oblongata--two case reports and review of the literature. 978 Jun 48

A case of rhabdomyoma in the base of the tongue that caused dysphagia and sleep apnea is presented. Diagnosis was accomplished by means of fine needle aspiration biopsy and MRI. The tumor was completely removed by a tongue midline split.
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PMID:Rhabdomyoma of the base of the tongue. A case report. 1083 52

A case of congenital lingual angiodysplasia with macroglossia in a 5-year-old girl is presented. A diffusely enlarged tongue was present at birth and continued to grow as the child aged. It was accompanied by impaired speech, difficulty in eating and breathing, and sleep apnea, necessitating surgical intervention. The fundamental lesion represents a complex vascular malformation of the lymphangioma-hemangioma type, involving extensively the deep musculature of the tongue. Multifocal and multicentric cavernous lymphangioma-like and hemangioma-like areas merge with benign angioendotheliomatous-like foci in a background of variable muscle degeneration and marked fibrosis. Neither a borderline nor an overtly malignant vasoformative neoplasm was present. Because of its distinctively widespread, multicentric intramuscular distribution, this lesion may be construed as a diffuse variant of lingual lymphangioma-hemangioma malformation, closely resembling a previously described case of macroglossal lymphangioendotheliomatosis.
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PMID:Congenital macroglossal angiodysplasia ("Lymphangioendotheliomatosis"). 1097 36

A 49-year-old woman with 6 months history of body weight loss, muscle weakness, and dysarthria, was found with respiratory arrest and resuscitated in the morning of January 1999. An MRI brain scan revealed diffuse swelling and T2/FLAIR high signal intensity with mild Gadolinium enhancement in the lower pons and medulla oblongata. Although the histological diagnosis could not be obtained, glioma (astrocytoma) was suspected. In the morning of July 3rd she presented sweating and cyanosis. Her arterial oxygen saturation was 18%. When we asked her to breathe more, she kept breathing and oxygen saturation was normalized. However, she could not breathe at all when she fell asleep without stimulation. She was kept under respiratory support for 2 months. Her symptoms improved with fluctuating course after 70 Gy of radiation therapy. Ondine curse is one type of sleep apnea syndrome, defined as the selective disturbance of autonomous breathing. Surgical operation and stroke are the reported causes of this syndrome. Brainstem tumor is relatively common cause for children's Ondine curse. On the other hand, it rarely causes adult's Ondine curse as a main symptom.
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PMID:[A case of Ondine curse associated with a medullary tumor]. 1121 2

Surgery was performed on the medulla oblongata of two adult patients with malignant glioma. Gross total resection of the tumors, located laterally or medially in the upper half of the medulla respectively, was achieved. The patient with the medially located tumor experienced significant postoperative neurological deterioration including sleep apnea. The other patient with the laterally located tumor showed symptomatic improvement without respiratory complications. The patient with an anaplastic astrocytoma survived approximately 4 years and the patient with a glioblastoma multiforme approximately 2 years. Although the upper half of the medulla is more critical than the lower half, a lateral approach to the upper half of the medulla appears to be relatively safer than a medial approach. Some cases of focal malignant gliomas in the medulla may be amenable to gross total resection in order to achieve improved outcome. Surgery can be undertaken when a tumor is unilateral and its margin appears relatively clear on magnetic resonance images.
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PMID:Gross total surgical removal of malignant glioma from the medulla oblongata: report of two adult cases with reference to surgical anatomy. 1464 74

Tonsillectomy (TE) is one of the most frequent as well as one of the most controversial surgical interventions. The objective of this paper was to assess the evidence of the most common indications for TE. For this purpose the literature of the past 25 years was analysed using the criteria of evidence based medicine. In children seventy-five percent of TEs are performed because of recurrent tonsillitis. Several randomised clinical trials (RCTs) have demonstrated the efficacy of TE in this disease. This indication is based on evidence grade I-II. No consensus has yet been reached, however, about the number of annual episodes that justify TE. The remaining paediatric TEs are performed to relieve symptoms of airway obstruction. TE has been shown to improve obstructive symptoms in up to 100% of patients. It is the accepted treatment of paediatric obstructive sleep apnoea, although the evidence is not based on major RCTs. In adults, too, the majority of TEs are performed for recurrent or chronic tonsillitis. There are no good RCTs, but the indication can be based on a series of well controlled studies (evidence grade III). Obviously, TE is indicated if there is suspicion of neoplasm. Peritonsillar abscess per se is no indication for TE, unless the abscess cannot be drained otherwise. TE plays no role in the standard management of OSAS and mononucleosis.
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PMID:[Evidence based indications for tonsillectomy]. 1519 18

Hypertrophic osteoarthropathy (HOA) is a condition that accompanies many seemingly unrelated diseases. It is commonly associated with various clinical conditions such as pregnancy, aging, pulmonary diseases, cancers, and other systemic illnesses. The condition has been attributed to various causes such as platelet abnormalities, hormonal disturbances, and cytokine dysfunction, but the exact underlying mechanism has been elusive. We propose a unifying hypothesis that activation of the adrenergic system is the common thread that links all of the disparate clinical associations of hypertrophic osteoarthropathy. In diseased states, autonomic stimulation may occur as a result of chemoreceptor activation in response to acidosis, hypoxia, or hypercapnia. Examples include sleep apnea, congestive heart failure, renal failure, and tumor-induced hypoxia. In this setting, clinical signs of HOA may be a marker of underlying autonomic dysfunction. Autonomic stimulation may also occur as a normal part of pregnancy or as an abnormal component of aging. The exact pathway linking adrenergic excess to HOA remains to be clarified, but a plausible scenario based on current molecular evidence is offered.
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PMID:Hypertrophic osteoarthropathy may be a marker of underlying sympathetic bias. 1523 3

Cyanotic breath-holding spell is a benign and self-limiting disease of young children but occasionally associated with sudden, unexpected death. The authors report a rare case in a 2-year-old girl with a severe form that started after radical resection of a cervicomedullary ganglioglioma. She was admitted to our hospital because of delayed and unstable gait. Since magnetic resonance imaging showed a cervicomedullary tumor, she underwent a radical resection and histology showed the tumor to be a ganglioglioma. Postoperatively, the function of the lower cranial nerves and cerebellum deteriorated and hemiparesis on the left became apparent, but she returned to the preoperative state in a few months. In addition, mild sleep apnea (Ondine curse) and severe cyanotic breath-holding spells occurred. The former responded to medication but the latter failed and continued several times per day with a rapid onset and progression of hypoxemia, loss of consciousness, sweating and opisthotonos. Five months after the operation, the patient returned home with a portable oxygen saturation monitor equipped with an alarm. This case indicates that cyanotic breath-holding spell, as well as sleep apnea, is critical during the early postoperative period. This is the first report observing that such spells may occur as a complication of radical resection of a cervicomedullary tumor.
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PMID:Cyanotic breath-holding spell: a life-threatening complication after radical resection of a cervicomedullary ganglioglioma. 1594 80


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