Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease

Sheikh, Shahid; Madiraju, Krishna; Qazi, Qutbuddin; Rao, Madu

doi:10.1002/(sici)1099-0496(199802)25:2<128::aid-ppul9>3.0.co;2-j

Cited by 9 publications

(8 citation statements)

References 7 publications

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“…The life prognosis of children with I‐cell disease is poor, as death occurs between the fifth and seventh year from recurrent upper respiratory tract infections, bronchopneumonia and heart failure for which the management is supportive with the prescribing of antibiotics to control the chest infections [12]. For children with I‐cell disease, the only therapeutic approach currently available is bone marrow transplantation to supply a source of structurally normal lysosomal enzymes [13].…”

Section: Introductionmentioning

confidence: 99%

Severe gingival hyperplasia in a child with I‐cell disease

Lee

O’Donnell

2003

Int J Paed Dentistry

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I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme, N-acetylglucosamine-1-phosphotransferease. The disease presents as a mental and motor developmental delay with oral manifestations that include severe gingival hyperplasia usually seen before one year of age. The life expectancy of children with this condition is poor, with death usually occurring around the fifth year. A case report of a 3-year-old Pakistani male, with I-cell disease, is presented. The chief dental concerns of the parents were his swollen gums and delayed tooth eruption. Supportive treatment only was initiated. Differential diagnosis for severe gingival overgrowth in young patients should take account of this rare metabolic disorder in addition to hereditary and idiopathic fibromatosis and drug associated gingival overgrowth.

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Section: Introductionmentioning

confidence: 99%

Severe gingival hyperplasia in a child with I‐cell disease

Lee

O’Donnell

2003

Int J Paed Dentistry

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“…Prolonged surgical procedures may require postoperative respiratory support. These patients may also require chronic management of respiratory compromise with techniques such as continuous positive pressure or tracheotomy with ventilator support from an early age [4]. Given the potential effects of the residual effects of anesthetic agents on upper airway and respiratory function, short acting anesthetic agents may be optimal and effective reversal of neuromuscular blockade is mandatory prior to tracheal extubation.…”

Section: Progressive Gingival Hypertrophy Gives Rise To An Open Bitementioning

confidence: 99%

“…Due to its rarity, clinical history and management considerations for these children have not been established [2,3]. Patients have a limited life expectancy of less than 10 years in most cases with death secondary to cardiopulmonary complications including recurrent upper respiratory tract infections, bronchopneumonia, and heart failure [4,5].…”

Section: Introductionmentioning

confidence: 99%

Anesthetic Management of a 13-Year-Old Adolescent With Mucolipidosis Type II for Total Hip Arthroplasty

et al. 2017

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Mucolipidosis II (ML II) or inclusion cell disease is a rare lysosomal storage disorder, inherited as an autosomal recessive trait. Deficiency of the lysosomal transport enzyme, N-acetylglucosamine-1-phosphotransferease, results in the intracellular accumulation of macromolecules (mucopolysaccharides and mucolipids) in the lysosome which leads to cellular dysfunction and a multi-system disorder. Manifestations are present at birth including muscle hypotonia, a weak cry, and failure to thrive. Additional physical signs include hip dislocation, inguinal hernia, hepatomegaly, limitation of joint movement, and cutaneous changes. Coarse facial features and skeletal abnormalities become more conspicuous with time. A rapidly progressive psychomotor deterioration, developmental delay and growth failure are often noted with a limited life span of 10 years. Due to the aforementioned physical abnormalities, surgical and anesthetic care may be required. We present a 13-year-old girl with ML II who required anesthetic care for a total hip arthroplasty due to chronic right hip dislocation. Previous reports of anesthetic care for these patients are reviewed, end-organ involvement is discussed, and options for anesthetic care are presented.

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“…1 Obstructive sleep apnea (OSA) and hypoventilation have been reported, presumably due to progressive airway obstruction and central nervous system disease as seen in MPS. 2 Progression of OSA and disrupted sleep architecture have been described in MPS; however, details of polysomnography and clinical course of sleep abnormalities have not been previously characterized in mucolipidosis. [3][4][5][6]…”

Section: Introductionmentioning

confidence: 99%

Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease)

Wooten

Muhlebach

Muenzer

et al. 2016

Journal of Clinical Sleep Medicine

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Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy. Background slowing and reduction in spindle activity on limited EEG may reflect progressive CNS disease affecting thalamic neurons.

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Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease

Cited by 9 publications

References 7 publications

Severe gingival hyperplasia in a child with I‐cell disease

Severe gingival hyperplasia in a child with I‐cell disease

Anesthetic Management of a 13-Year-Old Adolescent With Mucolipidosis Type II for Total Hip Arthroplasty

Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease)

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