Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. Differential diagnosis with Chédiak-Higashi syndrome and Griscelli syndrome must be done. [wwww.unboundmedicine.com]

Primary neurological presentation is rare. [casereports.in]

GS type 3 presents with hypopigmentation of skin and hair without any systemic involvement. No treatment is required. [aad.org]

Case Report A two and half year old female child, from India presented to our tertiary care hospital with complaints of inability to walk since past 6 months. [symbiosisonlinepublishing.com]

We present a child with classic clinical features and confirmatory findings of clumped melanosomes on microscopy of hair shaft. [e-ijd.org]

• Unconsciousness

  Clinical examination revealed an unconscious, fair-complexioned baby (as compared to parents and other siblings) with flat nasal bridge and pudgy cheeks [Figure 1]. [ijtrichology.com]

• Freckles

  Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med 1964;61:1142-1143. [12]Flueler U, Boltshauser E, Kilchhofer A. Iris hamartoma as diagnostic criterion in neurofibromatosis. [jebmh.com]

  Similarly, the 12-year-old patient with ED, reported by Ivanovich et al, [5] did not show generalized skin color abnormalities except a bronze-tan and diffuse freckling over exposed body parts. [ijdvl.com]

  Physical examination revealed above findings with de-pigmented macules and freckles over photo-exposed areas (face, arms, legs and neck) [Fig.1]. [casereports.in]

• Diplopia

  Ophthalmologic abnormalities include nystagmus, diplopia, amaurosis and absence of pupillary reflex. [4] Pigmentary abnormalities are the second common clinical feature which include silvery hair, a gradual bronze-colored tan of the sun-exposed areas [ijdvl.com]

  These include seizure, severe hypotonia, focal neurodeficits like flaccid/spastic paraplegia, quadriplegia, or ataxia. [9] Ocular abnormalities are common manifesting as nystagmus or diplopia. [ijtrichology.com]

  […] inheritance Abnormality of vision Wide nasal bridge Synophrys Aganglionic megacolon Malabsorption Albinism Peripheral neuropathy Heterochromia iridis White forelock White eyelashes White eyebrow Piebaldism Abnormal bleeding Ocular albinism Cirrhosis Diplopia [mendelian.co]

• Psychomotor Retardation

  retardation / learning disability - Movement disorder - Premature greying of hair - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Myopia - Tremor Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum [csbg.cnb.csic.es]

  Neurologic involvement with raised intra-cranial pressure, cerebellar signs, encephalopathy, hemiparesis, peripheral facial palsy, spasticity, hypotonia, seizures, psychomotor retardation and progressive neurologic deterioration is known(7). [indianpediatrics.net]

  Neurologic involvement with raised intracranial pressure, cerebellar signs, encephalopathy, hemiparesis, peripheral facial palsy, spasticity, hypotonia, seizures, psychomotor retardation and progressive neurologic deterioration is known [ 3 ]. [casereports.in]

• Cranial Nerve Involvement

  There was no history of fever, rash, recent intramuscular injection, convulsions, altered sensorium, involuntary movements, cranial nerve involvement, trauma or diarrhoea. The child had no significant illnesses or admissions in the past. [symbiosisonlinepublishing.com]

• Involuntary Movements

  There was no history of fever, rash, recent intramuscular injection, convulsions, altered sensorium, involuntary movements, cranial nerve involvement, trauma or diarrhoea. The child had no significant illnesses or admissions in the past. [symbiosisonlinepublishing.com]

Sepsis workup and CSF study including cytospin for malignant cells were negative. LDH was mildly elevated and serum ferritin, fibrinogen levels, triglycerides were normal ruling out possibility of hemo-phagocytosis [Table 1]. [casereports.in]

Management and treatment Treatment for ES remains limited: corticosteroids, anticonvulsants and antipyretics fail to prevent early death from severe neurologic dysfunction. [orpha.net]

There is currently no effective treatment. « Pityriasis Alba & Skin Pigmentation Griscelli Syndrome & Skin Pigmentation » [healthcentre.org.uk]

However, he did not respond to treatment and died. [scielo.br]

Treatment is with an allogeneic hematopoietic stem cell transplantation. [aad.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Prognosis - Hypomelanotic disorder Not supplied. Treatment - Hypomelanotic disorder Not supplied. Resources - Hypomelanotic disorder Not supplied. [checkorphan.org]

Prognosis All cases of Elejalde syndrome but one have been reported as being fatal; therefore, the prognosis is suboptimal. Patients with Elejalde syndrome undergo neurologic collapse and eventually are not able to move or care for themselves. [emedicine.medscape.com]

The prognosis of patients with Griscelli syndrome is grave. Curative hope is offered only by bone marrow or stem cell transplantation, which is more successful when, performed early in the course of the disease(8). [indianpediatrics.net]

Etiology The etiology of ES is still unknown, but recent molecular data have shed light on the complex relationship that exists between ES and the Griscelli syndrome (see this term). [orpha.net]

Etiology mutations in MYO5A, which codes for an actin-based molecular motor. [humpath.com]

Etiology Biochemical pathway leading to melanin production. Note that Tyrosinase is essential for the first two steps of the pathway. [eyewiki.aao.org]

- Elejalde disease - Elejalde syndrome Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology The syndrome was first described in 1979 in three consanguineous families. To date, about 20 patients have been reported in the literature. [orpha.net]

Relevant External Links for MYO5A Genetic Association Database (GAD) MYO5A Human Genome Epidemiology (HuGE) Navigator MYO5A Atlas of Genetics and Cytogenetics in Oncology and Haematology: MYO5A No data available for Genatlas for MYO5A Gene Cloning, analysis [genecards.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Pathophysiology The pathophysiology of Elejalde syndrome is not fully understood. Some have stated that it is the result of a distorted gene product responsible for early melanin formation. [emedicine.medscape.com]

Management and treatment Treatment for ES remains limited: corticosteroids, anticonvulsants and antipyretics fail to prevent early death from severe neurologic dysfunction. [orpha.net]

[…] type 1 Vogt-Koyanagi-Harada syndrome Hydroquinone Idiopathic guttate hypomelanosis Onchocerciasis Pinta Menke disease Yemenite deaf-blind hypopigmentation syndrome Anetoderma Azelaic acid Angelman\'s syndrome Tuberous sclerosis Anemia Actinic granuloma Prevention [checkorphan.org]

For long term storage, store at -20C in small aliquots to prevent freeze-thaw cycles. [avivasysbio.com]

In summary, the silvery-greyish hair associated with fever, pancytopenia and hypertriglyceridemia is the clue to early diagnosis of Griscelli syndrome and important to prevent death before stem cell transplantation. 1. [e-ijd.org]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]