Raghavendra B Nayak, *L Ambika, GS Bhogale and A Pandurangi
From the Departments of Psychiatry, JN
Medical College, KLE University, Belgaum, Karnataka; and
*Department of Oral Medicine and Radiology, School of
Dental Sciences, Krishna Institute of Medical Sciences
Karad, Maharastra, India.
Correspondence to: Dr Raghavendra B
Nayak, Assistant Professor, Department of Psychiatry, JN
Medical College, KLE University, Belgaum 10, Karnataka,
Received: May 5, 2011;
Initial review: June 13, 2011;
Accepted: July 26, 2011.
Aarskog-Scott syndrome is
characterized by embryonic ocular hypertelorism, anteverted
nostrils, broad upper lip, cryptorchidism, sternal deformity,
protruding umbilicus, pulmonary stenosis, ventricular septal defect,
peculiar penoscrotal relations (‘saddle-bag scrotum’ or ‘shawl
scrotum’) and ligamentous laxity manifest by hyperextensibility of
the fingers, genu recurvatum, and flat feet. The neuropsychiatric
manifestations include epilepsy, ADHD, mental retardation and
Asperger’s syndrome .
A 10-year-old boy presented to the Department of
Psychiatry with mild global developmental delay and behavioral
problems for evaluation. Patient was the second of the two siblings
born out of consanguineous marriage. Apart from developmental delay
patient was found to be restless, not sitting at one place,
impulsive behavior, difficulty in completing the given work, not
able to wait for his turn while playing and while at queue. He also
had temper tantrums which started from early childhood continuing
till date. For two months prior to presentation, parents noticed
increasing temper tantrums, demanding money, tobacco habit, ideas of
buying more cattle, abusive and assaultive behavior, over
familiarity, intrusive behavior, and increased appetite, which were
new symptoms in addition to earlier existing symptoms. Patient was
operated for tongue tie eight years back. There was a family history
of mental retardation in one maternal uncle. Patient’s older brother
had same phenotype without the accompanying behavioral or scholastic
problems. There was no family history of bipolar disorder or ADHD
among the family members. Physical growth was normal. The child had
dysmorphism including widow’s peak, broad nasal bridge, anti
mongoloid slant, malar hypoplasia, broad philtrum, malformed ears,
partial tongue tie, long eyelashes, broad central incisor teeth,
pectus excavatum, pot belly with everted umbilicus, shawl scrotum,
retractile testis, short fingers, camptodactyly, clinodactyly, right
single palmar crease, broad thumb and hypoplastic nails. Mental
examination revealed increased psychomotor activity,
distractibility, intrusive behavior, increased speech, irritable and
ideas of grandiosity. His baseline laboratory investigations were
within normal limits. X-ray imaging of skull and bilateral
wrist, echocardiography did not reveal any abnormalities.
Orthopantomogram revealed broad right central incisor and impacted
left central incisor. The patient was screened with MINI-Kid
(MINI International Neuropsychiatric Interview for Children and
Adolescents English Version 5.0) for presence of psychiatric
disorders. A diagnosis of first episode Mania with Aarskog-Scott
Syndrome and mild Mental Retardation with Attention Deficit
Hyperactivity Disorder (ADHD) was made. Initially patient was
started with oral Olanzapine 2.5 mg/day and gradually dose was
increased upto 10mg/day. Lorazepam was given to target agitation.
Manic symptoms responded in two weeks with persistence of ADHD
symptoms. Clonidine was started to target ADHD symptoms and patient
was subsequently discharged from the hospital. After six months of
regular therapy with olanzapine and clonidine, there was absence of
manic symptoms and some improvement in ADHD symptoms. The
improvement in ADHD symptoms in comparison to premorbid state were
reported by his father. The IQ assessment of the patient was done
after the control of Manic symptoms. His IQ was 60 and falls in the
mild mental retardation category.
According to the Fryns  the incidence of
mental handicap in Aarskog syndrome may be as high as 30%. Later
studies tested this observation with clinically confirmed Aarskog
syndrome and found their IQs to lie within the normal range. So,
Aarskog syndrome may or may not be associated with mental handicap
. The behavioural abnormalities described mainly include ADHD 
and none of the other specific psychiatric disorders are mentioned
with this syndrome. ADHD may be more common in some of the genetic
disorders, including Fragile X Syndrome, Neurofibromatosis 1,
DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome,
Williams Syndrome and Klinefelter Syndrome . ADHD is also
commonly associated with Aarskog-Scott syndrome . Presence of
ADHD with Aarskog-Scott syndrome might be due to common underlying
genetic problem that is FGD1 mutation . Genetic analysis was not
performed in this case.
We can make three hypotheses for the presence of
mania with Aarskog-Scott Syndrome in this case. First is that it
could be related to common underlying genetics for Mania, ADHD and
Aarskog-Scott Syndrome (X-linked inheritance or FGD1 gene). Second
hypothesis is that mania may be related to the presence of ADHD.
More than 90% of children with bipolar disorders will have comorbid
ADHD [5,6]. Moreover, both bipolar disorder and ADHD were more
likely to be diagnosed in boys than in girls. ADHD was more common
in children and adolescents with childhood-onset mania than in
patients with adolescent-onset mania . Third hypothesis is that
presence of mania could be coincidental with Aarskog-Scott Syndrome.
This case is reported because of its unique
occurrence along with Mania.
Contributors: RBN: diagnosed the case and
prepared the manuscript; AL: dental opinion, collecting the
literature and revising the manuscript; GSB: case workup; AP:
managing the case, follow up of the case and will act as the
guarantor. The final manuscript was approved by all authors.
Funding: None; Competing interests:
1. Online Mendelian Inhertence in Man.
Faciogenital Dysplasia. Available from: URL:
http://www.ncbi.nlm.nih.gov/omim/305400. Accessed on May 4, 2011.
2. Fryns JP. Aarskog syndrome: the changing
phenotype with age. Am J Med Genet. 1992;43:420-7.
3. Lo-Castro A, D’Agati E, Curatolo P. ADHD and
genetic syndromes. Brain Dev. 2011;33:456-61.
4. Orrico A, Galli L, Buoni S, Hayek G, Luchetti
A, Lorenzini S, et al. Attention-deficit/hyperactivity
disorder (ADHD) and variable clinical expression of Aarskog-Scott
syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet
A. 2005;135: 99-102.
5. Kramlinger KG, Post RM. Ultrarapid and
ultradian cycling in bipolar affective illness. Br J Psychiatry.
6. Wozniak J, Biederman J, Kiely K, Ablon JS, Faraone
SV, Mundy E, et al. Mania-like symptoms suggestive of
childhood-onset bipolar disorder in clinically referred children. J
Am Acad Child Adolesc Psychiatr. 1995;34:867-76.
7. Singh T. Pediatric bipolar disorder: diagnostic
challenges in identifying symptoms and course of illness. Psychiatry