Table 4. [Treatment of Manifestations in Individuals with RAB18 Deficiency]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Cataracts	Surgery frequently performed to remove cataracts	Cataract surgery results are poor due to cortical visual impairment. Glaucoma secondary to cataract surgery reported in several affected persons.
Seizures	Treatment by neurologist based on type of seizure present	Long-term treatment may be required. Seizure type in those w/polymicrogyria-associated epilepsy may change over time; neurologic surveillance & potentially altered seizure management may be required.
Motor dysfunction	PT to maximize mobility. Contractures are anecdotally responsive to baclofen, Botox^®, & orthopedic procedures. ¹	Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).
Breathing difficulties	Progression of motor dysfunction in later life may affect chest expansion & necessitate use of assisted ventilation; e.g., w/CPAP or breathing apparatus to maintain effective oxygenation.
Feeding difficulties w/resulting malnutrition	Gastrostomy tube placement	Persons w/Warburg micro syndrome frequently have difficulties chewing & swallowing, &/or dysphagia. Also, aspiration may place affected persons at risk for pulmonary infection.
Hypogonadotropic hypogonadism	Manifestations anecdotally responsive to hormone replacement therapy. Undescended testes may require surgical mgmt.	Differences may exist among medical professionals & w/in families re use of this therapy, which will initiate puberty & may improve subsequent bone mineral density.

Manifestation/
Concern

Treatment

Considerations/Other

Cataracts

Surgery frequently performed to remove cataracts

Cataract surgery results are poor due to cortical visual impairment. Glaucoma secondary to cataract surgery reported in several affected persons.

Seizures

Treatment by neurologist based on type of seizure present

Long-term treatment may be required. Seizure type in those w/polymicrogyria-associated epilepsy may change over time; neurologic surveillance & potentially altered seizure management may be required.

Motor dysfunction

PT to maximize mobility. Contractures are anecdotally responsive to baclofen, Botox^®, & orthopedic procedures. ¹

Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).

Breathing difficulties

Progression of motor dysfunction in later life may affect chest expansion & necessitate use of assisted ventilation; e.g., w/CPAP or breathing apparatus to maintain effective oxygenation.

Feeding difficulties w/resulting malnutrition

Gastrostomy tube placement

Persons w/Warburg micro syndrome frequently have difficulties chewing & swallowing, &/or dysphagia. Also, aspiration may place affected persons at risk for pulmonary infection.

Hypogonadotropic hypogonadism

Manifestations anecdotally responsive to hormone replacement therapy. Undescended testes may require surgical mgmt.

Differences may exist among medical professionals & w/in families re use of this therapy, which will initiate puberty & may improve subsequent bone mineral density.

From: RAB18 Deficiency

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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