Table 5.

Treatment of Manifestations in Individuals with CLPB Deficiency

Manifestation/ConcernTreatmentConsiderations/Other
Poor weight gain /
Failure to thrive 		Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Movement disorders Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices & disability parking placard.
Excessive drooling Botulinum toxin injection in salivary glands, extirpation of saliva glands, &/or rerouting of glandular ducts 2
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Neutropenia Subcutaneous G-CSFTo ↑ neutrophil counts & ↓ frequency of infections, esp in those w/mild or moderate phenotype 2
Standard immunizations per pediatric/adult guidelines to prevent infection
Consider HSCT in those presenting w/severe congenital neutropenia & w/o severe neurologic disease.
Cataracts Treatment per ophthalmologist
Endocrine dysfunction Treatment per endocrinologist
Renal Treatment per renal specialist
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; G-CSF = granulocyte-colony stimulating factor; HSCT = hematopoietic stem cell transplant; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

1.

SB Wortmann, personal communication

From: CLPB Deficiency

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