Abstract：
BACKGROUND:Peroxisomal disorders are classified in two major groups: (1) peroxisome biogenesis disorders and (2) single peroxisomal enzyme/transporter deficiencies. D-bifunctional protein deficiency (OMIM #261515) is included in this last group of rare diseases and leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are divided into four types based on the degree of activity of the 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units. PATIENT DESCRIPTION:We present the first Portuguese reported type II D-bifunctional protein deficiency patient, whose neonatal clinical picture is indistinguishable from a Zellweger spectrum disease. The clinical features and the neuroimaging findings of polymicrogyria raised suspicion of the diagnosis. After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene. The patient's parents were carriers of the mutated allele, confirming the patient homozygosity status and allowing prenatal diagnosis in future pregnancies. CONCLUSIONS:D-bifunctional protein deficiency is a rare, severe disease and the final diagnosis can only be accomplished after HSD17B4 gene sequencing. Treatment is supportive, aimed at improving nutrition and growth, controlling the central nervous system symptoms, and limiting the eventual progression of liver disease.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Nascimento J,Mota C,Lacerda L,Pacheco S,Chorão R,Martins E,Garrido Cdoi
10.1016/j.pediatrneurol.2015.01.007subject
Has Abstractpub_date
2015-05-01 00:00:00pages
539-43issue
5eissn
0887-8994issn
1873-5150pii
S0887-8994(15)00037-5journal_volume
52pub_type
杂志文章abstract：:Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...
journal_title：Pediatric neurology
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更新日期：2020-04-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00187-5
更新日期：1995-11-01 00:00:00
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journal_title：Pediatric neurology
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更新日期：2007-10-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2011-10-01 00:00:00
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pub_type： 杂志文章
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更新日期：1993-11-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.04.007
更新日期：2012-07-01 00:00:00
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更新日期：2017-11-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2017-12-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2020-10-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.02.007
更新日期：2020-07-01 00:00:00
abstract：:Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this te...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00379-x
更新日期：2002-05-01 00:00:00
abstract：:This study assessed potential etiologies of arterial ischemic stroke and hemorrhagic stroke among children of Mainland China. From January 1996-June 2006, 251 patients with consecutive childhood stroke (aged 1 month through 16 years) were admitted to Beijing Children's Hospital. Arterial ischemic stroke accounted for ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.11.002
更新日期：2009-04-01 00:00:00
abstract：:The expression of tumor necrosis factor alpha (TNF alpha) was examined in infants with leukomalacia by means of immunohistochemical methods with an antihuman TNF alpha monoclonal antibody. We studied 23 patients with neonatal leukomalacia, classified as having "focal," "widespread," or "diffuse" disease according to t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00223-5
更新日期：1996-01-01 00:00:00
abstract：:A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are simil...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(89)90083-0
更新日期：1989-07-01 00:00:00
abstract：:We describe the association of brain death in an infant with a large cutaneous hemangioma of the forearm. The irreversible cerebral injury is presumed to be secondary to cerebral hypoperfusion as a result of a combination of systemic hypotension and a systemic vascular "steal" phenomenon caused by the cutaneous hemang...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90083-d
更新日期：1990-01-01 00:00:00
abstract：:We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.09.012
更新日期：2010-02-01 00:00:00
abstract：:Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.10.020
更新日期：2006-06-01 00:00:00
abstract：PURPOSE:Corpus callosotomy and vagus nerve stimulation are common palliative options for people with drug-resistant epilepsy when resective epilepsy surgery is not feasible. Because most of the published corpus callosotomy experience comes from a period before vagus nerve stimulation was approved and widely used, there...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.09.008
更新日期：2014-12-01 00:00:00
abstract：:The somatosensory evoked potentials from the lower extremities were measured postoperatively in 15 patients with biliary atresia to investigate whether they were free of neurologic dysfunction. Because long-standing cholestasis causes progressive neuropathy due to malabsorption of vitamin E, the serum vitamin E, D, an...
journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：1997-04-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.07.014
更新日期：2017-12-01 00:00:00
abstract：:Cardiac arrhythmia may be one of the major causes of sudden unexpected death in children with epilepsy. We assessed drug-induced QT prolongation to establish whether the use of antiepileptic drugs contributes to sudden unexpected death. A total of 178 children with epilepsy (93 males and 85 females, with ages ranging ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/S0887-8994(03)00405-3
更新日期：2004-02-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(87)90058-0
更新日期：1987-01-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00125-8
更新日期：1999-02-01 00:00:00
abstract：:This study was undertaken to investigate the protective role of lactate on the hypoxic brain in newborn rats. A total of 107 7-day-old Wistar rats were divided into three groups. The lactate accumulation group was given 5% oxygen and 95% nitrogen for 30 minutes. The lactate elimination group was given 5% oxygen, a con...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00039-9
更新日期：1999-08-01 00:00:00
abstract：:A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(99)00075-2
更新日期：1999-10-01 00:00:00
abstract：:Idiopathic soft palate paralysis is an isolated clinical entity of unknown cause. Typical clinical features are sudden onset, rhinolalia, and nasal escape of fluids from the ipsilateral nostril. The disorder affects mainly male children at the ages of 2 to 3 years and resolves spontaneously. This report presents a 5-y...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.02.014
更新日期：2005-08-01 00:00:00
abstract：:Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemic...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.07.011
更新日期：2006-03-01 00:00:00
abstract：:Melioidosis from Pseudomonas pseudomallei is common in endemic areas (particularly southeast Asia) and is being recognized with increasing frequency in developed countries. Central nervous system involvement is a rare complication with a high mortality. A patient with multiple cerebral abscesses caused by this organis...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(89)90010-6
更新日期：1989-01-01 00:00:00
