|Year : 2015 | Volume
| Issue : 2 | Page : 135-137
Case report on short limb dwarfism - Rhizomelic chondrodysplasia punctata
Pareshkumar A Thakkar, Neha Tripathi, Sheila Aiyer
Department of Pediatrics, Medical College and SSG Hospital, Vadodara, Gujarat, India
|Date of Web Publication||6-Apr-2015|
Dr. Neha Tripathi
C/o Vimal Sharma, 15/24, Moti Nagar, New Delhi - 110 015
Source of Support: None, Conflict of Interest: None
We are reporting a case of rhizomelic chondrodysplasia punctata, which is a rare form of peroxisomal disorder. It is an autosomal recessive disorder with distinct clinical phenotype of dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts and specific radiological abnormality like punctate epiphyseal calcification.  A Hindu male baby, born at term (40 weeks) by vaginal delivery, had a weak cry at birth referred to Neonatal Intensive Care Unit for fast breathing. Baby had proximal shortening of upper limbs and lower limbs. Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow. On ophthalmological examination, there was bilateral megalocornea and near mature cataract.
Keywords: Peroxisomal disorders, punctata epiphyseal calcification, rhizomelic chondrodysplasia punctata
|How to cite this article:|
Thakkar PA, Tripathi N, Aiyer S. Case report on short limb dwarfism - Rhizomelic chondrodysplasia punctata. J Clin Neonatol 2015;4:135-7
| Introduction|| |
Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare peroxisomal disorders, which is autosomal recessive and characterized by dwarfism due to symmetrical shortening of long bones (rhizomelia), cataracts, periarticular calcifications, multiple joint contractures, specific radiological abnormalities and psychomotor retardation.  Specific radiological abnormalities include shortening of the proximal limb bones, presence of stippled foci of calcification within hyaline cartilage, metaphyseal cupping and vertebral bodies having coronal clefts filled with cartilage.  Biochemical profile that is characteristic for different types of peroxisomal disorders and is confirmatory.  This is a case report of a neonate with characteristic features of RCDP.
| Case Report|| |
A Hindu male baby, born at term (40 weeks) by vaginal delivery, had a weak cry at birth. Baby had fast breathing on Neonatal Intensive Care Unit admission. There was no history of consanguinity. Mother's age was 23 years, and father's was 27 years. There was no history of abortions or exposure to a teratogen during pregnancy. His birth weight was 2000 g (<3 rd centile for gestational age), length was 42 cm (<3 rd centile) and head circumference was 33.7 cm (50 th centile). The upper segment to lower segment ratio was 1.8:1. Baby had proximal shortening of upper limbs and lower limbs [Figure 1]. Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow. On ophthalmological examination, there was bilateral megalocornea and near mature cataract.
|Figure 1: Baby with suspected rhizomelic chondrodysplasia punctata. Note the coarse facial features and bilateral short upper arm|
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A skeletal survey showed bilateral symmetrical shortening of humerus and femur with Punctate epiphysis due to stippled calcification [Figure 2] and [Figure 3]. Diaphyseal thickening with metaphyseal splaying and fraying were noted. Bilateral acetabular erosion was present. In cervico-thoracic vertebral region, multiple paravertebral calcific foci were noted.
|Figure3: Infantogram of the patient with red arrows showing both short humerus and blue arrows show bilateral short femur bones|
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Abdominal and cranial ultrasonography was normal. Two-dimensional echocardiography was normal. Biochemical profile and genetic assay could not be done due to financial constraints and availability of the tests at few centers in India. Genetic counseling of parents was done. Parents took leave against medical advice on 4 th day of admission.
| Discussion|| |
Chondrodysplasia punctata (CDP) is one of the peroxisomal disorders which are genetically determined disorders, they are either due to failure to form or maintain peroxisome or defect in function of a single enzyme that is normally located in peroxisome.  CDP is one of the disorders of peroxisome import while others being Zellwegar syndrome, neonatal adrenoleukodystrophy, infantile refsum disease. CDP has four main types autosomal dominant (conradi-Hunermann's type), autosomal recessive (rhizomelic type), X-linked dominant form (Happle) and the X-linked recessive form. 
There are three types of RCDP. Type 1 involves PEX7 gene mutation. Type 2 and 3 are phenotypically similar to RCDP type 1 but result from deficiencies of dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase, respectively. 
Our patient had characteristic proximal limb shortening with cataract with joint contractures and physical parameters less than the normal centile values for gestational age. Typical radiological findings further strengthened the diagnosis of RCDP. RCDP is a radiological diagnosis with specific finding of stippled calcification and shortening of proximal bones with biochemical parameters only confirming it.
Biochemical assays which are confirmatory for diagnosis includes plasma phytanic acid levels, which are increased but during infancy the plasma phytanic acid levels are normal because the neonate has not ingested phytanic acid and red blood cells plasmalogen levels which are decreased. Plasma very long chain fatty acid levels remain normal unlike in Zellweger syndrome and infantile refsum disease. DNA analysis shows PEX7 gene defect. 
There have been case reports of maternal autoimmune diseases like systemic lupus erythematosus (SLE) and phenylketonuria with babies having CDP. ,, However in this case, no such association was found. A case report from West Bengal (India) was published with baby having phenotype abnormalities of Chondrodysplasia Punctate [CDP] but no chemical abnormality was detected, but the mother had SLE. 
Management is basically supportive. This includes extraction of cataract, physiotherapy, occupational therapy, seizure control, vision and hearing assessment, growth and development monitoring and genetic counseling. Genetic counseling is very important as these disorders can be diagnosed prenatally and carries 25% recurrence risk in future pregnancies. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy between 19 and 21 weeks detecting rhizomelic shortenings of humeri and femur and punctate stippling. Prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villious or amniotic fluid cells.
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[Figure 1], [Figure 2], [Figure 3]