1/28. A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits.We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/28. Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age.- - - - - - - - - - ranking = 1.5keywords = dysplasia (Clic here for more details about this article) |
3/28. mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.A patient was diagnosed in 1974 with the unique combination of Leber hereditary optic neuropathy (LHON) and spondyloepiphyseal dysplasia. The entire mitochondrial DNA (mtDNA) sequence from this patient was determined in order to identify candidate pathogenic mutations. The patient's mtDNA carried the LHON mutation at nucleotide 14484, thus elucidating the etiology of his optic neuropathy. We also identified another ND6 mutation at nucleotide 14420. This latter mutation is probably a clinically benign private polymorphism, although a pathogenic role in his skeletal abnormalities or in his optic neuropathy cannot yet be ruled out.- - - - - - - - - - ranking = 1.25keywords = dysplasia (Clic here for more details about this article) |
4/28. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As with the previous case, our patient's course was characterized by persistent hepatomegaly, severe mental retardation, progressive loss of developmental milestones and diminished visual acuity associated with nystagmus, abnormal discs and retinal changes. death occurred at 2 years of age, following a progressive loss of neurological function. Pipecolic acid was repeatedly present in the serum at a concentrattion of 4-5 mg %. Trace amounts of this compound were also detected in the urine. In addition, an adaption of the method of Piez et al. (1956) for the direct quantitation of pipecolic acid in serum was evaluated and found to be very useful for the biochemical diagnosis of this disorder.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
5/28. septo-optic dysplasia: a literature review.BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.- - - - - - - - - - ranking = 1.25keywords = dysplasia (Clic here for more details about this article) |
6/28. Encephalocraniocutaneous lipomatosis: neurologic manifestations.We report a new case of encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome of unknown etiology with involvement of tissues arising from the mesoderm and ectoderm: skin, eye, adipose tissue, and brain. We also review the neurologic manifestations of the syndrome, the most frequent of which include seizures, ventricular enlargement, calcifications, mental retardation, and cerebellopontine angle tumor. Our patient had an extensive extradural spinal cord lipomatous lesion, emphasizing the importance of screening for spinal abnormalities in asymptomatic patients with this condition.- - - - - - - - - - ranking = 512.30178995515keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
7/28. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belonging to the oto-palato-digital (OPD) spectrum, are caused by FLNA mutations. They are considered mutually exclusive because of the different presumed effects of the respective FLNA gene mutations, leading to loss of function (PVNH) and gain of function (OPD), respectively. We describe here the first patient manifesting PVNH in combination with frontometaphyseal dysplasia, a skeletal dysplasia of the OPD-spectrum. A novel de novo mutation, 7315C-->A in exon 45 of the FLNA gene, was identified. It leads to two aberrant transcripts, one full-length transcript with the point mutation causing a substitution of a highly conserved leucine residue (L2439M) and a second shortened transcript lacking 21 bp due to the creation of an ectopic splice donor site in exon 45. We propose that the dual phenotype is caused by two functionally different, aberrant filamin A proteins and therefore represents an exceptional model case of allelic gain-of-function and loss-of-function phenotypes due to a single mutational event.- - - - - - - - - - ranking = 1.75keywords = dysplasia (Clic here for more details about this article) |
8/28. The neurological implications of fibromuscular dysplasia.fibromuscular dysplasia is a noninflammatory segmental disease of the arteries, of unknown origin. While the renal arteries are most commonly affected, other larger vessels, including the carotid and vertebrals, may be involved. fibromuscular dysplasia has been implicated as a cause of stroke in adults and (on rare occasions) in children. The classic angiographic presentation is that of a string of beads. The condition frequently requires surgical or interventional radiological treatment. These approaches most commonly lead to long-term neurological improvement. Five cases with typical angiographic appearance are presented.- - - - - - - - - - ranking = 1.5keywords = dysplasia (Clic here for more details about this article) |
9/28. Eruptive vellus hair cysts and neurologic abnormalities: two related conditions?A fifteen-year-old white boy with a history of seizure disorder, borderline cognitive function, academic difficulty, and explosive temper outbursts was evaluated for asymptomatic flesh-colored papules appearing on his chest, abdomen, and axillae. Examination of a biopsy specimen showed eruptive vellus hair cysts; results of genetic, endocrinologic, and neuropsychiatric evaluation revealed abnormalities suggestive of a previously undescribed neurocutaneous syndrome.- - - - - - - - - - ranking = 512.30178995515keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
10/28. Neurological disease in xeroderma pigmentosum. documentation of a late onset type of the juvenile onset form.xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective dna repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective dna repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported from london, establish as a distinct clinical entity the late onset type of the juvenile onset form of XP neurological disease. The functional capacity of these patients' cultured fibroblast strains to survive after treatment with ultraviolet radiation indicates that their dna repair defect is less severe than that of typical group A patients who have a more severe neurodegeneration with an earlier symptomatic onset. The premature death of nerve cells in XP patients (which is presumably due to their inherited defects in dna repair mechanisms) suggests that normal repair of damaged DNA in neurons is required to maintain integrity of the human nervous system.- - - - - - - - - - ranking = 70.401629980451keywords = neurocutaneous (Clic here for more details about this article) |
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