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Year : 2019  |  Volume : 11  |  Issue : 2  |  Page : 65-67

Rhizomelia: A rare cause of congenital cataract

1 Department of Ophthalmology, IGMC, Shimla, Himachal Pradesh, India
2 Department of Pediatrics, IGMC, Shimla, Himachal Pradesh, India

Date of Submission06-Oct-2019
Date of Decision26-Nov-2019
Date of Acceptance14-Oct-2019
Date of Web Publication09-Mar-2020

Correspondence Address:
Dr. Praveen Kumar Panwar
Department of Ophthalmology, IGMC, Shimla, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/sjopthal.sjopthal_27_19

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Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder of peroxisomal metabolism characterized by skeletal deformities, cataract, growth retardation, and psychomotor retardation. We report a case of a 4½-year-old female child with complaints of limping and whitish discoloration of the right eye. On the basis of her clinical examination and radiological investigation, she was diagnosed with RCDP. We operated the child for congenital cataract, and posterior chamber intraocular lens (PCOL) was implanted. The rarity of this disorder has prompted us to report this case. Although there is no cure for this disorder, symptomatic and supportive treatment can improve the quality of life in these patients.

Keywords: Cataract, growth retardation, phacoemulsification, rhizomelic chondrodysplasia punctata

How to cite this article:
Panwar PK, Panwar C, Sood T. Rhizomelia: A rare cause of congenital cataract. Sudanese J Ophthalmol 2019;11:65-7

How to cite this URL:
Panwar PK, Panwar C, Sood T. Rhizomelia: A rare cause of congenital cataract. Sudanese J Ophthalmol [serial online] 2019 [cited 2023 Jan 31];11:65-7. Available from: https://www.sjopthal.net/text.asp?2019/11/2/65/280246

  Introduction Top

Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease. It affects 1 in 100,000 individuals. It impairs the normal development of many parts of the body. The features of this disorder include bony abnormalities, mental retardation, joint contractures, cataract, recurrent respiratory infections, and breathing problems. Seizures, prominent forehead, depressed nasal bridge, and small nose are associated with this pathology. Three genetic subtypes have been reported, of which RCDP Type 1, caused by mutations in the peroxisomal biogenesis factor 7 gene, is the most common type. RCDP Type 2 and 3 have single enzyme deficiencies in the plasmalogen biosynthesis pathway.[1]

  Case Report Top

We report a case of a 4½-year-old female child presented with chief complaints of limping for 1 year and whitish discoloration of the right eye for 6 months according to her parents. Her mother had an uneventful antenatal period with no history of fever, any drug, or X-ray exposure and had normal vaginal delivery at term (40 weeks). There was no history of consanguinity. At 3 years of age, she started sitting with support and speaking bisyllables. The child was walking with a limp. Pediatric evaluation and orthopedic evaluation were performed. Currently, her weight was 8.3 kg (expected 17.9 kg, <3rd centile for her age), height was 68 cm (expected 113 cm, <3rd centile for her age), and head circumference was 47 cm (expected 49.8, <3rd centile) [Figure 1]. Facial features showed prominent forehead. There was kyphotic deformity in the dorsolumbar spine. The length of the upper extremities was 44 cm and that of the lower extremities was 24 cm, with a ratio of 1.8:1 (expected 1.2:1). She had symmetrical shortening of proximal bones of the upper and lower limbs [Figure 2]. The baby had contractures at the knee and elbow and polydactyly in the right hand [Figure 3].
Figure 1: Clinical photograph showing short stature and limbs' contracture

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Figure 2: Lower extremity X-ray showing shorting of the femurs

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Figure 3: Clinical photograph showing polydactyly of the right hand

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On ophthalmological examination, the pupillary light reflex was normal in the left eye, whereas it was sluggish in the right eye. There was no refractive error on retinoscopy, and visual acuity was PL + PR accurate in the right eye. The patient had horizontal nystagmus with slow component to the right side. The horizontal dimension of the cornea in the right eye was 11 mm and in the left eye was 11.7 mm. She had a dense membranous cataract in the right eye with multiple posterior synechiae [Figure 4]. The anterior and posterior segment of the left eye was normal. Her B-scan of both the eyes showed echo-free vitreous with anteroposterior diameter in the right eye of 21 mm and in the left eye of 24 mm.
Figure 4: Clinical photograph showing poor papillary dilation and cataract in the right eye

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Her complete blood count, biochemical parameters, and abdominal ultrasonography were normal. Two-dimensional echocardiography was normal. The X-rays as well as magnetic resonance imaging of the pelvis and bilateral hips revealed shortened bilateral femur with hypoplastic left femoral epiphysis with dysplastic right femoral epiphysis and acetabulum with a superolateral displacement of the right femoral head [Figure 5].
Figure 5: X-ray of the pelvis showing shortened bilateral femur with hypoplastic left femoral epiphysis with dysplastic right femoral epiphysis and acetabulum with a superolateral displacement of the right femoral head

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The patient was planned for cataract surgery and phacoemulsification with posterior chamber intraocular lens implantation with posterior capsulotomy, and anterior vitrectomy was performed in the right eye [Figure 6]. Postoperatively 2nd week after surgery, she was subsequently put on occlusion therapy to prevent amblyopia.
Figure 6: First-day postoperative picture showing posterior chamber intraocular lens in place

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  Discussion Top

RCDP is an autosomal recessive disorder of chondrodysplasia punctata (CDP) family caused by abnormal peroxisomal function. The CPD family includes the autosomal dominant form (Conradi–Hünermann syndrome) and the autosomal recessive (rhizomelic), both resulting from a peroxisomal metabolic disorder, the X-linked recessive (CDPX1) resulting from defects in arylsulfatase E and dominant (CDPX2 or Conradi–Hünnermann–Happle syndrome) caused by defects in cholesterol biosynthesis pathway. There are three types of RCDP. Type 1 involves the PEX7 gene mutation. Type 2 and 3 result from the deficiencies of dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase, respectively. Biochemically, there is reduced level of plasmalogens, decrease in phytanic acid oxidation, and presence of a unprocessed (inactive) 3-oxoacyl-CoA thiolase with normal very long-chain fatty acids.[2]

RCDP is characterized by rhizomelic shortening, mainly affecting the proximal long bones, facial dysmorphism, seizures, cataracts, severe growth retardation, and joint contractures.[2],[3],[4] There are punctate calcifications and long bones' metaphyseal and epiphyseal ossification changes, punctate calcifications, and coronal clefts in the vertebral bodies of the thoracic and lumbar spine microcephaly. These clefts are formed due to the poor fusion of the anterior and posterior halves of vertebral bodies, occurring around the 4th month of gestation.

The punctate calcifications are caused by a progressive cartilage degeneration represented by chondrocytes with a pycnotic nucleus and eosinophil cytoplasm followed by ossification.[5] Other features of ichthyosis, cataracts, restricted joint mobility, sucking and deglutition difficulty, alopecia, auditive and visual deficiencies, optic nerve hypoplasia, kyphoscoliosis, and cleft spine have also been described in the literature.[6] The patient in the present case report had kyphotic deformity in the dorsolumbar spine, proximal shortening of the upper limbs and lower limbs [Figure 2], contractures at the thigh and elbow, and all growth parameters less than the normal values of centile for her gestational age. The diagnosis of RCDP was further supported by typical radiological findings of stippled calcification and shortening of proximal bones.

The differential diagnosis includes Zellweger syndrome, adrenoleukodystrophy, infantile Refsum disease, maternal disease, warfarin exposure, Smith–Lemli–Opitz syndrome, and fetal alcohol syndrome.[7]

The management of these patients is mainly supportive. This includes extraction of cataract, physiotherapy, control of seizures, vision and hearing assessment, growth and development monitoring, and genetic counseling. Genetic counseling constitutes an important part of management as it carries a 25% recurrence rate in subsequent pregnancies and can be diagnosed by prenatal ultrasound by detecting peroxisomal dysfunction chorionic villous or amniotic fluid cells in the first trimester and rhizomelic shortenings of the humerus and femur and punctate stippling in the second trimester.

Thus, we conclude that although there is no cure for this disorder, multidisciplinary approach involving pediatrician, orthopedician, physiotherapist, and ophthalmologist is required to relieve them from symptoms due to skeletal deformities and restore vision, thereby improving their quality of life.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the parents of the child have given their consent for her images and other clinical information to be reported in the journal. The patients understand that their name and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Mahale Y, Kadu VV, Chaudhari A. Rare case of rhizomelic chondrodysplasia punctata. J Orthop Case Rep 2015;5:38-40.  Back to cited text no. 1
Diseases2 Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 2013;8:174.  Back to cited text no. 2
Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: A clinical diagnostic and radiological review. Clin Dysmorphol 2008;17:229-41.  Back to cited text no. 3
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006;1763:1733-48.  Back to cited text no. 4
Poulos A, Sheffield L, Sharp P, Sherwood G, Johnson D, Beckman K, et al. Rhizomelic chondrodysplasia punctata: Clinical, pathologic, and biochemical findings in two patients. J Pediatr 1988;113:685-90.  Back to cited text no. 5
Figueirêdo S, de Araújo JS, Kozan JE, Santos NC, Tanganeli V. Rhizomelic chondrodysplasia punctata: A case report and brief literature review. Radiol Bras 2007;40:69-72.  Back to cited text no. 6
Fourie DT. Chondrodysplasia punctata: Case report and literature review of patients with heart lesions. Pediatr Cardiol 1995;16:247-50.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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