1/9. optic nerve hypoplasia in cholestatic infants: a multiple case study.PURPOSE: To present four infants with optic nerve hypoplasia and cholestasis. methods: All patients underwent detailed ophthalmological and hepatological assessment. Their endocrinological and neuroradiological examinations were re-evaluated. RESULTS: All four infants presented with cholestasis and were subsequently found to have optic nerve hypoplasia. One child was blind according to the WHO definition and two had low vision. The fourth child had unilateral optic nerve hypoplasia and was too young to be assessed with optotypes. All four children had central nervous system and/or endocrine dysfunction. However, only one child had septo-optic dysplasia. The longterm outcome of liver disease seemed favourable in all children. CONCLUSION: Early assessment by a paediatric ophthalmologist as well as a multidisciplinary approach is of great importance in cholestatic infants.- - - - - - - - - - ranking = 1keywords = septo-optic dysplasia, septo-optic, dysplasia (Clic here for more details about this article) |
2/9. 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 = 0.0053488545858579keywords = dysplasia (Clic here for more details about this article) |
3/9. McCune-Albright syndrome associated with pituitary microadenoma: patient report.McCune-Albright syndrome (MAS) is a rare disorder characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and cafe-au-lait spots. Additional endocrine abnormalities may also be present, including hyperthyroidism, growth hormone excess and hyperprolactinemia. The most commonly encountered endocrine dysfunction is gonadal hyperfunction. Gonadotropin-independent precocious puberty is typically the initial manifestation of MAS in girls. ovarian cysts may be detected on pelvic ultrasound. Our patient was also found to have pituitary microadenoma, evidenced by dynamic magnetic resonance imaging.- - - - - - - - - - ranking = 0.0010697709171716keywords = dysplasia (Clic here for more details about this article) |
4/9. magnetic resonance imaging of pituitary stalk hypoplasia. A discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia.septo-optic dysplasia describes optic nerve hypoplasia in association with endocrine disturbances and/or midline brain malformations. magnetic resonance imaging of the brain was used to study two patients with optic nerve hypoplasia, endocrine abnormalities, and normal midline brain anatomy on prior computed tomographic scan. The magnetic resonance imaging scans showed normal midline brain anatomy except for failure to visualize the pituitary stalk, a structure that magnetic resonance imaging has shown to be 100% sensitive in imaging in our normal controls. We propose that our two patients have endocrine abnormalities due to the discrete anomaly of pituitary stalk hypoplasia.- - - - - - - - - - ranking = 4.0010697709172keywords = septo-optic dysplasia, septo-optic, dysplasia (Clic here for more details about this article) |
5/9. exophthalmos and basilar impression. A contribution to differential diagnosis of endocrine orbitopathy.We report on a male patient with exophthalmos of unclear etiology, basilar impression, syringohydromyelia and type II arnold-chiari malformation. Two diseases involving the orbital region were to be considered in differential diagnostic terms: endocrine orbitopathy and osseous orbit dysplasia. The typical physical appearance associated with basilar impression as well as suppurative keratitis in Lagophthalmos was striking. Tetraspasticity with pareses, bulbar symptoms, proximally pronounced muscular atrophy as well as a left hemihypesthesia was shown neurologically. Although the orbit CT was normal, sonography revealed thickened ocular muscles. There was euthyroidism in diffuse goiter with negative thyroid autoantibody findings. Because of lack of definitive detection of muscular swelling, tumor, or vascular anomaly in the various images, orbital dysplasia in the context of a malformation syndrome affecting several organs is suggested as the cause of the exophthalmos.- - - - - - - - - - ranking = 0.0021395418343432keywords = dysplasia (Clic here for more details about this article) |
6/9. McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.A 6 5/12-year-old boy with polyostotic fibrous dysplasia, cafe-au-lait pigmentation of the skin, and precocious pubertal development was studied for two years. Parathormone, calcium, phosphorus, testosterone, cortisol, and growth hormone levels were within normal limits. Urinary 17-ketosteroids, 17-ketogenic steroids, and estrogens were at the upper limits of normal. After GnRH stimulation, there was only a very slight increase in LH and no increase in FSH. There was no increase in TSH after TRH, and plasma levels of T4 and T3 were normal. The plasma prolactin level was within normal limits, and increased after TRH stimulation (with a second, delayed upsurge). Abnormal distribution of 131I in the thyroid was evident, without clearcut evidence of hyperfunctioning areas after TSH stimulation and T3 suppression tests followed by conventional scanning and gamma camera scintiphotography. Our findings do not support the claimed, single, hypothalamic origin of the disease that is presumed to result in overproduction of releasing hormones; they are more in keeping with a pleiotropic, scattered peripheral lesion, possibly of embryonal origin.- - - - - - - - - - ranking = 0.0010697709171716keywords = dysplasia (Clic here for more details about this article) |
7/9. Albright syndrome.The Albright syndrome consists of the triad of polyostotic fibrous dysplasia, skin lesions and endocrinopathies. We are presenting the case of a young girl with the syndrome, who was treated for a mandibular lesion with a bone graft taken from her mother.- - - - - - - - - - ranking = 0.0010697709171716keywords = dysplasia (Clic here for more details about this article) |
8/9. The Albright-McCune syndrome. Case report with emphasis on craniofacial bone dysplasia and fracture healing.An instance of Albright-McCune's syndrome in a male is reported. Special attention is paid to the complete lack of cranial nerve affection in spite of the extensive thickening of the skull base. fracture healing was normal as regards time and callus formation. A favourable prognosis is anticipated.- - - - - - - - - - ranking = 0.0042790836686864keywords = dysplasia (Clic here for more details about this article) |
9/9. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.McCune-Albright syndrome (MCAS) is a sporadic disease classically including polyostotic fibrous dysplasia, cafe au lait spots, sexual precocity, and other hyperfunctional endocrinopathies. An activating missense mutation in the gene for the alpha subunit of GS, the G protein that stimulates cyclic adenosine monophosphate formation, has been reported to be present in these patients. The mutation is found in variable abundance in different affected endocrine and nonendocrine tissues, consistent with the mosaic distribution of abnormal cells generated by a somatic cell mutation early in embryogenesis. We describe three patients with MCAS who had profound endocrine and nonendocrine disease and who died in childhood. Two of the patients were severely ill neonates whose complex symptoms did not immediately suggest MCAS. A mutation of residue Arg201 of GS alpha was found in affected tissues from all three children. A review of the literature and unpublished case histories emphasizes the existence of other patients with severe and unusual clinical manifestations. We conclude that the manifestations of MCAS are more extensive than is generally appreciated, and may include hepatobiliary disease, cardiac disease, other nonendocrine abnormalities, and sudden or premature death.- - - - - - - - - - ranking = 0.0010697709171716keywords = dysplasia (Clic here for more details about this article) |