4Q DELETION SYNDROME IN A TWO-YEAR-OLD BOY: A CASE REPORT

INTRODUCTION
Chromosome 4q deletion syndrome is a rare genetic disorder with highly variable clinical features, and it is estimated to
occur in 1 in 100,000 people. Symptoms may vary significantly depending on the size and location of the missing
chromosomal fragment, and whether it is terminal deletion or interstitial deletion. Among children with interstitial deletions,
the most common features included abnormal skull, low-set ears, moderate to severe developmental delay, and postnatal
growth failure.
To date, only a single case of a patient with 4q deletion syndrome treated with growth hormone has been reported in the
literature. This index case described a 7-year-old boy with an interstitial 4q deletion, who presented with significant growth
failure in early infancy. Growth hormone therapy was initiated at 13 months of age for small for gestational age indication.
Following treatment, his height and weight improved significantly, rising from below the 1st percentile at 13 months to the
5th percentile by age 2. Since the age of 4 years, he has continued to grow along 10-12%.
CASE PRESENTATION
We present a case report of a 2-year-old boy with 4q deletion syndrome who was admitted to a paediatric endocrinologist
for evaluation of short stature. He was born at 37 weeks of gestation after induction of delivery due to intrauterine growth
retardation, which was detected on ultrasound examination at 34 weeks. The mother had no illnesses during pregnancy, no
harmful habits, and no chronic disease. The child's birth weight was 1770 g (< 3rd percentile), length 43 cm, head
circumference 30 cm, and chest circumference 28 cm. Nine days after birth, neurosonography findings were consistent with
the child's age, and abdominal ultrasound showed no pathology. Due to mixed developmental delays and unspecified
myopathy, brain MRI with spectroscopy was performed at the age of 1 year and 3 months. It demonstrated a small
haemosiderin deposition in the left occipital horn following an intraventricular haemorrhage. Transthoracic echocardiography
was also performed and had no pathological findings. Given motor delays, speech and language delays, and short stature, a
2-year-old boy underwent genetic analysis, which revealed an interstitial deletion of the long arm of chromosome 4.
Chromosomal testing of the parents confirmed a normal karyotype in both.
Objectively, the boy presented with very dry skin, muscular hypotonia, and joint hypermobility. On examination, his weight
was 7.7 kg (-4SD), and his height was 79.5 cm (-4SD), indicating significant growth retardation. He was at Tanner stage I,
consistent with prepubertal status, with a testicular volume of 1 ml bilaterally.
DISCUSSION
Given the patient's current short stature and the limited evidence on the necessity and efficacy of growth hormone therapy in
rare disorders such as 4q deletion syndrome, personalized care and a multidisciplinary approach, including thorough
investigations prior to initiating therapy, are essential. It is particularly important to follow current growth hormone treatment
guidelines as well as accepted national recommendations for growth failure. The patient meets the definition of SGA, so the
current strategy would be expectant monitoring of growth parameters alone. The need for initiating growth therapy will be
decided at 4 years of age according to currently accepted standards.