The neuronal ceroid lipofuscinoses, also known as Batten disease, are a group of neurodegenerative disorders considered the most common of the neurogenetic storage diseases. The prevalence is estimated at 1:12,500 worldwide whereas the frequency is higher in the United States and northern European populations with an occurrence of 1:10,000. It is a group of inherited, neurodegenerative, lysosomal storage disorders characterized by accumulation of lipopigments (lipofuscin) in major organs such as the heart, liver, spleen, and kidneys. This leads to progressive mental and motor deterioration, seizures, and early death. Visual loss is a feature of most forms. The phenotypes have been classified clinically by age of onset, duration, blindness, seizures, and the form that lipofuscin accumulation takes. The list of diagnosis is detailed in Table L-3.
TABLE L-3 Lipofuscinoses, Neuronal Ceroid ||Download (.pdf) TABLE L-3 Lipofuscinoses, Neuronal Ceroid
|Type ||Age of Onset ||Clinical Features ||Gene Locus and Chromosomal Location ||Defective Enzyme |
|Infantile ||6-18 months ||Early psychomotor and visual deterioration, late-onset seizures ||CLN1 on 1p32 ||Lysosomal palmitoyl-protein thioesterase |
|Late infantile (classic) ||2-4 years ||Early psychomotor and late visual deterioration, early-onset seizures ||CLN2 on 11p15 ||Lysosomal pepstatin-insensitive protease |
|Variant late infantile ||2-6 years ||Early psychomotor and visual deterioration, early-onset seizures ||CLN6 on 15q21-23 ||Unknown |
|Turkish variant late infantile ||2-4 years ||Early psychomotor deterioration, variable-onset visual deterioration and seizures ||CLN7 on unknown chromosome ||Unknown |
|Finnish late infantile ||5-7 years ||Early psychomotor and visual deterioration, late-onset seizures ||CLN5 on 13q21-q32 ||Novel membrane protein (not an enzyme) |
|Juvenile ||4-8 years ||Late-onset psychomotor deterioration and seizures, variable-onset visual deterioration ||CLN3 on 16p12 ||Novel membrane protein (not an enzyme) |
|Progressive epilepsy with mental retardation ||5-10 years ||Early-onset seizures, late psychomotor deterioration, no visual deterioration ||CLN8 on 8p23 ||Unknown |
|Kufs disease ||>20 years ||Early-onset psychomotor deterioration and seizures (or no seizures), no visual involvement ||CLN4 on unknown chromosome ||Unknown |
The impairment of numerous organ normal functions due to the infiltration of the lipofuscin represents major challenges for the anesthesia. It is important to evaluate carefully the status of the central nervous system, especially for loss of cognitive and motor function, myoclonus, and intractable seizures. Seizures medication must be continued until the day of elective surgery. For prolonged surgical procedures, a transition to intravenous antiepileptic agents is highly recommended to ensure coverage intraoperatively and postoperatively. Complications with the cardiovascular system must be expected, particularly arrhythmias. Severe bradycardia can be important. Finally, impairment of the thermoregulation may potentially lead to perioperative hypothermia that could be associated with important complications, ie, anesthesia drugs pharmacokinetics, cardiovascular stability, and postoperative recovery.
JD: Perioperative care of a patient with neuronal ceroid lipofuscinoses. Saudi J Anaesth