Griscelli Syndrome Clinical Presentation

Updated: Jan 14, 2020
  • Author: Saud A Alobaida, MBBS, FRCPC; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Often, the first manifestation of Griscelli syndrome (GS) is silver hair. The differential diagnosis for silvery hair of the newborn includes Griscelli syndrome, Chédiak-Higashi syndrome (CHS), Elejalde syndrome, and oculocerebral hypopigmentation syndrome (OHS), Cross type. [37] Although Hermansky-Pudlak disease is a form of albinism, it does not present with silver hair or immunologic findings like Griscelli syndrome. [38, 39]

Some patients can remain in good health, with only limited symptoms into their 20s. [40]

Griscelli syndrome type 1

The neurologic effects of Griscelli syndrome type 1 usually manifest early in life and even at birth. Severe neurologic symptoms are noticeable without any sign of an hemophagocytic syndrome (HS), accelerated phase. CNS disorder is permanent and never regresses with time. The symptoms consist of the following:

  • Obstructive hydrocephalus without hematological abnormalities or organomegaly [41]
  • Bilateral basal ganglia involvement [42]
  • Hypotonia
  • Absence of coordinated voluntary movements
  • Bulbar poliomyelitis
  • Encephalopathy
  • Hemiparesis
  • Peripheral facial palsy
  • Spasticity
  • Seizures
  • Psychomotor retardation

Griscelli syndrome type 2

In Griscelli syndrome type 2, immunologic effects are noted shortly after the silvery hair. The immunologic defects of Griscelli syndrome type 2 resemble those of familial hemophagocytic lymphohistiocytosis (HLH) syndromes. Griscelli syndrome II can also cause neurologic manifestations in association with HS (accelerated phase). Neurologic problems may be the first sign of HS (accelerated phase). They are related to lymphocyte infiltration of the CNS. These problems are not as severe as those found in Griscelli syndrome type 1 and tend to fluctuate.

The symptoms include hyperreflexia, seizures, signs of intracranial hypertension (eg, vomiting, altered consciousness), regression of developmental milestones, hypertonia, nystagmus, and ataxia. Psychomotor development is normal at onset, and regression of CNS signs, at least in part, can be observed during remission, although some sequelae may be irreversible.

At birth, nonspecific findings can occur in Griscelli syndrome type 2, including petechiae and hepatosplenomegaly.

A history of severe infections associated with the occurrence of acute phases of uncontrolled lymphocyte and macrophage activation, so-called HS (accelerated phase), is seen in Griscelli syndrome type 2.

In 2003, Dinakar et al [43] reported on a 6-year-old girl with Griscelli syndrome type 2. The patient experienced perpetual infections, seizures, regression of milestones, silvery hair, and organomegaly. Her brain was affected with unusual features of a Dandy-Walker cyst, and her blood and bone marrow were also affected, manifesting hypergammaglobulinemia.

Griscelli syndrome type 3

Patients with Griscelli syndrome type 3 present with silvery hair, but generally do not have other complications.

One report describes a preterm neonate with Griscelli syndrome type 3 who presented with silvery-gray hair and eyelashes, respiratory distress, and intracerebral hemorrhage. The child recovered the systemic symptoms and had no persistent neurological symptoms or HS. [44]

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Physical Examination

Griscelli syndrome (GS) types 1 and 2 cause pigmentary dilution and other internal organ abnormalities.

Skin manifestations in all Griscelli syndrome variants include partial albinism. The appearance of the hair has been variably described as silvery gray, silvery, grayish golden, or dusty. The skin is usually pale, but the albinism is not complete. Kharkar et al [45] described a phenotype of Griscelli syndrome with circumscribed pigment loss. Granulomatous skin lesions have been described in patients with Griscelli syndrome type 2, and this finding was thought to portend a poor prognosis. [36]

Liver manifestations include hepatosplenomegaly and jaundice as a result of hepatitis. In patients with Griscelli syndrome type 2, bone marrow involvement can present as pallor and petechia.

Griscelli syndrome type 1 presents with neurological findings including hemiparesis, peripheral facial palsy, spasticity, seizures, and psychomotor retardation. In Griscelli syndrome type 2, neurologic impairments can occur as a result of CNS lymphohistiocytic infiltration with erythrophagocytosis. Rajadhyax et al [41] noted obstructive hydrocephalus without hematological abnormalities or organomegaly in a patient with Griscelli syndrome type 2.

Ocular defects can occur in Griscelli syndrome. Partial ocular albinism has been observed in some patients with Griscelli syndrome, but retinal degeneration has not been reported in this disorder. [46]

Asymmetric crying facies was a feature observed in a patient with Griscelli syndrome. [47]

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Complications

In Griscelli syndrome (GS) type 1, severe neurological sequelae, including psychomotor retardation and visual complications, are permanent. [12]

Patients with Griscelli syndrome type 2 may have infections as well as neurologic, immunologic, and bleeding problems. A case of melanoma in situ was reported in a patient after allogeneic bone marrow transplantation in a person with Griscelli syndrome type 2. [48]

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