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Table of Contents    
Year : 2019  |  Volume : 67  |  Issue : 5  |  Page : 1386-1387

Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report

1 Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey
2 Medical Genetics, Dr. Behçet Uz Children's Hospital, İzmir, Turkey

Date of Web Publication19-Nov-2019

Correspondence Address:
Dr. Sultan Aydin Koker
Division of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, Izmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.271244

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How to cite this article:
Koker SA, Hazan F, Oymak Y, Soydan E, Karapınar TH, Ay Y, Demirağ B, Vergin RC. Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report. Neurol India 2019;67:1386-7

How to cite this URL:
Koker SA, Hazan F, Oymak Y, Soydan E, Karapınar TH, Ay Y, Demirağ B, Vergin RC. Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report. Neurol India [serial online] 2019 [cited 2021 Aug 4];67:1386-7. Available from:


The acrocallosal syndrome (ACS), first described by Schinzel in 1979, is a rare genetic disorder.[1] Only 37 cases of ACS have been described in the literature till date.[2] ACS is characterized by craniofacial, brain, and digital anomalies.[1] It is a ciliopathy with hypertelorism, prominent forehead, hypoplasia/agenesis of corpus callosum, large cerebral cysts or arachnoid cysts, macrocephaly, as well as polydactyly.[3] Hypotonia, seizures, and mental retardation may also be present.

The diagnosis of ACS is based on the criteria laid by Courtens et al. in 1997:[4]

  1. Total or partial absence of the corpus callosum on neuroimaging;

  2. Minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, and large anterior fontanelle);

  3. Moderate-to-severe psychomotor retardation (with hypotonia); and

  4. Polydactyly.

The presence of three of the four criteria is suggestive of ACS.

A 5-year-old boy presented with a swelling in his right proximal tibia. He had no other complaints such as fever or bone pain. He was born to healthy nonconsanguineous parents after a spontaneous vaginal delivery at 34 weeks gestation with a birth weight of 2.6 kg (50th percentile). He was the second child and had a healthy sister. There were no delivery complications and no teratogen exposure during pregnancy. Polydactyly in both hands and feet and ulnar deviation of the fingers (3 and 4) in the left hand were detected at birth. When he was 1 year old he was operated on for these digital abnormalities. Motor development was delayed; he had gait disorder and delayed speech. There was no history of epilepsy.

On examination, radial pulse was 90/min, blood pressure was 100/90 mmHg, and his weight and height was in the 10th–25th percentile and 50th percentile, respectively, when he was 5 years old. His head circumference was 56 cm (90th–97th percentile). On general examination, the patient showed dysmorphic features such as macrocephaly, large forehead, hypertelorism, epicanthal folds, broad nasal bridge, short philtrum, and a high-arched palate [Figure 1]. He had clinodactyly of the third and fourth fingers in his left hand [Figure 2] and [Figure 3]. Motor function of his arms were normal (power 5/5), but he was paraplegic and his deep tendon reflexes on lower limbs could not be elicited. He had moderate mental retardation. Further examination revealed that he was followed-up previously by the pediatric neurology department for an arachnoid cyst. Brain magnetic resonance imaging (MRI) performed for diagnostic evaluation of motor and mental retardation which revealed. A cranial MRI revealed agenesis of corpus callosum, 10 cm large interhemispheric cysts in midline and in frontal region, and cortical dysplasia of the bilateral frontal lobe [Figure 4]. Cerebellar atrophy was also present [Figure 4]. He had no seizures, but electroencephalography (EEG) revealed focal epilepsy originating from the centrotemporal region of the left hemisphere.
Figure 1: Facial appearence of the patient. Photograph showing macrocephaly, broad forehead and hypertelorism

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Figure 2: Photograph showing the digital anomalies

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Figure 3: Bilateral digital anomalies

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Figure 4: MRI of brain showing agenesis of corpus callosum with a large interhemispheric cysts in midline in frontal region and cortical dysplasia of bilateral frontal lobe

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Investigations demonstrated a complete blood count and biochemistry within the reference range. An X-ray of both hands and feet with digit showed bilateral fourth and fifth digit clinodactyly [Figure 3]. Ultrasonography of the abdomen revealed normal appearing liver, spleen, and kidneys. Audiometric evaluation was normal. Ophthalmological and cardiological examinations including echocardiography were normal. Acute lymphoblastic leukemia (ALL) was detected in bone marrow aspiration due to mass of the tibia.

We report the case of a 5-year-old male who showed clinical characteristics of ACS as macrocephaly, polydactyly, hypertelorism, digital anomalies and agenesis of the corpus callosum, and large interhemispheric cyts. He was admitted to the hospital for a right proximal tibial mass. His bone marrow aspiration revealed a diagnosis of ALL. Here, we report an ACS patient presenting with ALL which has not been reported in the literature yet.

In conclusion, genetic counseling is of prime importance. Any patient with polysyndactyly and absence of corpus callosum with craniofacial abnormalities should be examined carefully to rule out this syndrome. Diagnosis can be attempted by mutation analysis. In the absence of KIF7 mutation, presence of three of the four criteria laid by Courtens et al. are suggestive of ACS. Interestingly, our patient was the first case of ACS and leukemia together.

Declaration of patient consent

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

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Conflicts of interest

There are no conflicts of interest.

  References Top

Schinzel A. Postaxial polydactyly, hallux duplication, absence of corpus callosum, macroencephaly and severe mental retardation: A new syndrome? Helv Paediatr Acta 1979;34:141-6.  Back to cited text no. 1
Bijarnia S, Baijal A, Verma IC. Genetic counselling in Schnizel acrocallosal syndrome. Indian J Pediatr 2003;70:169-71.  Back to cited text no. 2
Schinzel A. The acrocallosal syndrome: Expansion of the phenotypic spectrum. Clin Dysmorphol 1994;3:31-4.  Back to cited text no. 3
Courtens W, Vamos E, Christophe C, Schinzel A. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome. Am J Med Genet 1997;69:17-22.  Back to cited text no. 4


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


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