In this case report, we present a patient with phenotypic features of Gillespie’s syndrome with a homozygous variant in the ITPR1 gene that has not previously been reported. [tandfonline.com]

The numbered bands specify the location of the thousands of genes that are present on each chromosome. [rarediseases.org]

Strabismus and ptosis are often present. There may also be retinal hypopigmentation. Cataract, glaucoma, and corneal opacities are not present. [disorders.eyes.arizona.edu]

Reference article, Radiopaedia.org (Accessed on 29 Mar 2023) https://doi.org/10.53347/rID-65142 Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. [radiopaedia.org]

It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner.[4] Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.[1][3] Presentation[edit] The combination of muscular hypotonia [en.wikipedia.org]

• Delayed Speech Development

  This abnormality can cause delayed development of motor skills such as walking. In addition, difficulty controlling the muscles in the mouth can lead to delayed speech development. [rarediseases.oscar.ncsu.edu]

  This abnormality can cause hypotonia and delayed development of motor skills such as walking. In addition, difficulty controlling the muscles of the mouth can lead to delayed speech development. [medlineplus.gov]

• Blurred Vision

  In addition, they may exhibit droopy eyelids (ptosis); inward deviation of one eye (esotropia), resulting in double vision (diplopia); and/or farsightedness (hypermetropia), causing blurred vision, eye strain, and/or difficulty in viewing close objects [rarediseases.org]

• Nystagmus

  Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome. The balance and movement problems in Gillespie syndrome result from underdevelopment (hypoplasia) of a part of the brain called the cerebellum. [rarediseases.oscar.ncsu.edu]

  On examination, she had dysarthria, nystagmus and ataxia. Ophthalmological evaluation showed absence of part of the iris or aniridia (Figure 1) and magnetic resonance imaging (MRI) pointed mild cerebellar atrophy. [scielo.br]

  If involuntary movements of the eye (nystagmus) occur in association with aniridia, the ophthalmologist will record eye movements to determine the exact type of nystagmus present. [rarediseases.org]

  Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome. The balance and movement problems in Gillespie syndrome result from hypoplasia of the cerebellum, which is the part of the brain that coordinates movement. [medlineplus.gov]

  […] dysplasia.[7] Atypical Gillespie syndrome associated with bilateral ptosis, exotropia, correctopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation.[8] Neurological signs are nystagmus [en.wikipedia.org]

• Global Developmental Delay

  A 23-year-old woman presented with global developmental delay and non-progressive ataxia since birth. Parents were consanguineous. On examination, she had dysarthria, nystagmus and ataxia. [scielo.br]

• Cerebellar Disease

  Neurological examination revealed an ataxic gait, hypotonia, dysdiadochokinesia, intention tremor, horizontal nystagmus and dysarthria, all consistent with cerebellar disease. No pyramidal or extrapyramidal signs were identified. [bmcpediatr.biomedcentral.com]

• Fixed Pupils

  The iris may be relatively intact but immobile leading to the description in some patients of "dilated and fixed pupils", or congenital mydriasis. The pupillary margin may be scalloped with iris strands to the lens. [disorders.eyes.arizona.edu]

• Involuntary Movements

  In many cases, people with aniridia may also exhibit repeated, involuntary movements of the eye (nystagmus). [rarediseases.org]

Treatment Treatment Options: No treatment is available. [disorders.eyes.arizona.edu]

The pelvic congestion syndrome: role of the «nutcracker phenomenon» and results of endovascular treatment. JBR-BTR 2004;87:1-8. Jeanneret C, Beier K, von Weymarn A, et al. [revistaangiologia.es]

Embolization treatment of recurrent varices of pelvic origin. In: S ZE, J CC, M CO, G SF, editors. Phlebology. 2006; 21(1): 74-7. 50. Smith PC. The outcome of treatment for pelvic congestion syndrome. Phlebology. 2012;27 Suppl 1:74-7. [revistas.fucsalud.edu.co]

Standard Therapies Treatment The treatment of ACAMD is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

[citation needed] Diagnosis[edit] Brain MRI shows vermis atrophy or hypoplasic.[11] Cerebral and cerebellar atrophy with white matter changes in some cases.[6] Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

Once suspected, targeted genetic testing will confirm the diagnosis and enable counseling regarding prognosis and risk of the disease in other family members. [bmcpediatr.biomedcentral.com]

Part I: Background, anatomy and etiology. Intervention. 2000; 4: 67-71. 16. Leal Monedero J. Indicaciones y tratamiento del síndrome de congestión pélvica. Flebología y linfología, lecturas vasculres. 2010; 5(14): 841-7. 17. [revistas.fucsalud.edu.co]

Pelvic congestion syndrome: etiology of pain, diagnosis, and clinical management. J Vasc Interv Radiol 2014;25:725-33. DOI: 10.1016/j.jvir.2014.01.030 Durham JD, Machan L. Pelvic congestion syndrome. Semin Intervent Radiol 2013;30:372-80. [revistaangiologia.es]

Epidemiology of complex regional pain syndrome: a retrospective chart review of 134 patients. Pain 1999;80:539-544. Bacchini M, Vaienti E, Soncini G. [revistas.udc.es]

Clinical features and pathophysiology of Complex Regional Pain Syndrome. Lancet Neurology 2011;10:637–648. Rewhorn MJ, Leung AH, Gillespie A et al. Incidence of Complex Regional Pain Syndrome after foot and ankle surgery. [revistas.udc.es]