leukodystrophies are congenital demyelinating disorders causing damage to the myelin sheath , an insulating membrane that surrounds nerve cells in the brain
. there are forty different types and adrenoleukodystrophy ( ald ) is an x - linked inherited disorder with a prevalence of 1 in 20,000 - 50,000 individuals worldwide .
people with x - linked adrenoleukodystrophy ( x - ald ) accumulate high levels of saturated , very long chain fatty acids ( vlcfa ) in the brain and adrenal cortex .
the loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of x - ald .
while nearly all patients with x - ald suffer from adrenal insufficiency , also known as addison 's disease , the neurological symptoms can begin either in childhood or in adulthood .
the childhood cerebral form is the most severe , with onset between ages 4 and 10 .
the most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression , poor memory , and poor school performance .
other symptoms include visual loss , learning disabilities , seizures , poorly articulated speech , difficulty swallowing , deafness , disturbances of gait and coordination , fatigue , intermittent vomiting , increased skin pigmentation and progressive dementia .
there are a couple of case reports in india on this disorder , but none relating the symptoms to attention deficit hyperactivity disorder ( adhd ) .
we are presenting this interesting case of x - ald , childhood onset , initially presenting to psychiatric outpatients department with features of adhd .
a 7-year - old boy was brought to the psychiatry outpatient department by his mother .
no concerns noted in the school or at home until 5 years of age . when he progressed to year one in school , problems started .
teachers complained that he had been inattentive , does nt sit at one place and disruptive in the class .
his scholastic performance declined , and mother started having difficult time at home as well .
he showed no interest in homework , could nt remember what has been taught , more importantly started to forget what he has learnt in the past 2 years .
the teachers have advised consulting a psychiatrist and that he may need a special school for further education as his behavior was unmanageable .
she however tried changing the schools twice before bringing him for consultation , but his behavior problems got worse . during the assessment the boy was very impatient , constantly trying to leave the interview room , running up and down the stairs , distractible , and uncooperative .
the assessment was done on two occasions , and neuropsychologist was involved who administered rating scales to screen and assess the severity of behavioral problems .
the boy had hyper - pigmented lesions in his face , but it was overlooked at that point . he was started on methylphenidate 5 mg initially and titrated to 10 mg . as his behavior was very disruptive ,
putting himself at risk of accidental harm , he was started on risperidone 0.5 mg .
two weeks later he presented with fever and an episode of generalized tonic clonic seizures .
he presented again the following week with another episode of generalized tonic - clonic seizures with fever and altered consciousness .
brain was done which revealed symmetrical t2-hyperintense white matter changes mainly in the posterior periventricular area . pediatric neurologist and endocrinologist
were involved , plasma assay of vlcfa done and a diagnosis of ald was made .
probing family history revealed similar problems in his cousin who died at the age of ten .
literature search has shown a couple of case reports from united states where ald was misdiagnosed as adhd .
this is the first time we hear about this rare neurological condition presenting as adhd in india .
it never struck in our mind that symptoms of adhd could be secondary to another neurological disorder in this boy given the typical nature and onset of the presentation .
furthermore , we overlooked the hyperpigmentation in the face initially until he was seen by endocrinologist after the mri helped with the diagnosis .
the presence of facial hyperpigmentation and occurrence of tonic clonic seizures during the course of the illness should alert the clinicians look for these rare but important genetic cause .
we explained the course and prognosis of the condition to the parents and given appropriate psychological support .
the boy was also referred to special education and occupational therapy as part of the treatment plan .
 x - linked adrenoleukodystrophy ( x - ald ) is one the leukodystrophies causing a progressive decline in neurological function mainly affecting the children . the most common symptoms are changes in behavior , including social withdrawal or aggression , poor memory or poor scholastic performance . here 
 , we present a 7-year - old boy who presented with symptoms of inattention and hyperactivity and later turned out to be a case of x - ald . 
INTRODUCTION
CASE REPORT
COURSE OF THE DISORDER
DISCUSSION