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 Table of Contents  
Year : 2016  |  Volume : 2  |  Issue : 1  |  Page : 54-57

Sanjad-Sakati syndrome: Beyond the Middle-East

Department of Neurology, Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication10-Aug-2016

Correspondence Address:
Chetana Sen
B-7/11, Diamond Park, Joka, Kolkata - 700 104, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2395-4264.188166

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Sanjad-Sakati syndrome (OMIM 241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a rare autosomal recessive syndrome of congenital hypoparathyroidism, mental retardation, and facial dysmorphism, reported almost exclusively in the Middle-Eastern children of consanguineous parents. Here, we present a 20-year-old male child from India presenting with childhood-onset, recurrent generalized seizures, which were poorly controlled with multiple antiepileptics. Along with intrauterine growth retardation, the patient had short stature and typical facial dysmorphism. Investigations revealed extensive intracranial calcifications, with hypoparathyroidism and severe hypocalcemia. This is only the third reported patient of HRD phenotype in a non-Arab patient and the first to present with multifocal dystonia. Thus, it is important to keep in mind untreated hypocalcemia in a patient of refractory seizures, with HRD possibly being no longer an exclusively Middle-Eastern disease.

Keywords: Dysmorphism, dystonia, hypoparathyroidism, Sanjad-Sakati syndrome, seizures

How to cite this article:
Sen C, Pal S, Sengupta P, Pal A, Ganguly J, Das C, Basu D. Sanjad-Sakati syndrome: Beyond the Middle-East. Indian J Cereb Palsy 2016;2:54-7

How to cite this URL:
Sen C, Pal S, Sengupta P, Pal A, Ganguly J, Das C, Basu D. Sanjad-Sakati syndrome: Beyond the Middle-East. Indian J Cereb Palsy [serial online] 2016 [cited 2020 Oct 21];2:54-7. Available from: https://www.ijcpjournal.org/text.asp?2016/2/1/54/188166

  Introduction Top

A patient of intractable generalized seizure disorder of childhood-onset with intracranial calcifications may have several differentials, hypoparathyroidism being one of them. However, when associated with facial dysmorphism and global retardation, it may be a part of rare syndromes such as DiGeorge, Sanjad-Sakati, and Kenny-Caffey. We present a 20-year-old Indian male child with new-onset multifocal dystonia. He had mental retardation and infantile onset generalized tonic clonic seizures (GTCS) and had been labeled as a patient having cerebral palsy. Combined with primary hypoparathyroidism and characteristic facial dysmorphism, a diagnosis of Sanjad-Sakati Syndrome or hypoparathyroidism-retardation-dysmorphism (HRD) syndrome was made. HRD is an autosomal disease which has rarely been reported outside the Middle-East. Multifocal dystonia in a patient of HRD is a novel neurological phenomenon. An unusual presentation of a rare disease, thus led to initial diagnostic confusion.

  Case report Top

A 20-year-old male child, born of nonconsanguinous marriage, of Eastern Indian descent, presented with abnormal posturing of his hands and feet and a difficulty in walking due to cramping pains and abnormal buckling of his legs for the past 2 years. He had a history of recurrent GTCS since infancy, not controlled with multiple antiepileptic drugs (sodium valproate, levetiracetam, clobazam). He had a history of intra-uterine growth failure, birth weight being 1.8 kg, with no fetal distress. Subsequently, there was global developmental delay; head control at 9 months, sitting and standing without support at 18 and 22 months, respectively, and walking without support at 3 years, meaningful words after 3.5 years; with growth and mental retardation; height being 141 cm, weight 43 kg (<3 rd percentile of height and weight-for-age norms), head circumference being 44 cm, with IQ <70 (with revised Bhatia's short battery of performance test). [1] He was previously diagnosed and being treated as a patient of cerebral palsy with epilepsy elsewhere.

On examination, the patient had facial dysmorphism in the form of microcephaly, deep set eyes, beaked nose, low set large floppy ears, high arched palate, long philtrum, thin upper lip, and dental caries with enamel hypoplasia with short stature [Figure 1] and [Figure 2]. There was persistent dystonic posturing of both his hands with flexion at wrist, metacarpophalangeal extension, proximal interphalangeal flexion, distal interphalangeal extension, with knee flexion, ankle dorsiflexion, and metatarsophalangeal extension. Gait revealed a dystonic gait with occasional acute onset painful spasms of the lower limbs with hip and knee flexion, resulting in falls. A childhood computed tomography of the brain showed bilateral basal ganglia and cerebellar calcifications [Figure 3]. The possibility of calcium metabolism disorder was considered and corroborated by the presence of positive Chvostek's sign, a latent sign of tetany.
Figure 1: Characteristic facial dysmorphism of Sanjad-Sakati syndrome

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Figure 2: Lateral image showing large floppy ears, micrognathia, long philtrum, and deep set eyes

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Figure 3: Computed tomography of the brain - bilateral basal ganglia and cerebellar calcifications

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Investigations revealed a normal complete blood count, kidney and liver function tests, with normal albumin and alkaline phosphatase. His serum calcium was below 5 mg/dl, with high phosphate 9.1 mg/dl (2.5-4.9), low immunoreactive parathyroid hormone (iPTH) 6.1 pg/ml (14-72) with normal 25-hydroxy vitamin D3, and normal serum magnesium 2.2 mg/dl (1.8-2.4). Echocardiography was normal, X-ray of both femurs were normal.

The presentation of multifocal dystonia in a background of mental retardation, and epilepsy entailed several differential diagnoses. The presence of congenital hypoparathyroidism with typical facial dysmorphism matched with the phenotype of HRD. The patient was managed with intravenous calcium, followed by maintenance on oral calcium (1 g/day), calcitriol (0.5 mcg/day) and antiepileptic (sodium valproate). No seizures were observed during his hospital stay. A week after calcium replacement, there was marked improvement in his dystonia with no further lower limb cramps and falls. A follow-up visit at 1 month revealed a normal calcium level of 8.2 mg/dl, with no dystonia or tetany, and no further seizures.

  Discussion Top

Primary hypoparathyroidism is characterized by decreased iPTH, hypocalcemia, and hyperphosphatemia, as in our child. An association with abnormal facies, mental retardation, bilateral lenticular cataracts, extensive intracranial calcifications, and manifestation of the disease from early childhood suggests a congenital or hereditary etiology. There may be several causes of congenital hypoparathyroidism, but an association with abnormal facies has been documented in predominantly three syndromes, namely DiGeorge syndrome,  Kenny-Caffey syndrome More Details, and HRD syndrome.

HRD, also known as the Sanjad-Sakati syndrome (OMIM 241410), is a rare autosomal recessive syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism, and growth failure reported almost exclusively in the Middle-Eastern children of consanguineous parents. The first report of HRD, was by Sanjad et al. from Saudi Arabia. [2] The height, weight, and head circumference scores in all children reported were <2 standard deviation from the mean for their ages. Children had similar facies with microcephaly, deep-set eyes, depressed nasal bridge with beaked nose, long philtrum, thin upper lip, micrognathia, microdontia, enamel hypoplasia and large, floppy earlobes. Medullary stenosis and other skeletal defects have been reported. Patients reported by Sanjad et al. from Saudi Arabia had severe intrauterine and postnatal growth retardation. Symptoms had occurred in the newborn period in most of them. Congenital hypoparathyroidism was present in all reported patients. None of the babies had congenital heart disease or depressed cell mediated immunity, in contrast with DiGeorge syndrome, another cause for congenital hypoparathyroidism. [2],[3],[4]

In 2009, Naguib et al. described the estimated incidence of the syndrome in Kuwait to be 7-18 per 100,000 live births. [5] Most of the patients described have been from Saudi Arabia and Kuwait, with <20 patients reported in English language, till date. To the best of our knowledge, this is only the third patient of phenotypic HRD in a non-Arab child to be reported worldwide, the previous two being children of Indian origin, as in our patient. [6],[7] The syndrome can be confused with autosomal recessive Kenney-Caffy syndrome type 1 (OMIM 244460), which shares similar phenotypic and genotypic features, but additionally presents with osteosclerosis, medullary stenosis of the long bones, normal intelligence, and recurrent bacterial infections. Parvari et al., in 2002, demonstrated mutations in the tubulin-specific chaperone E gene in both Kenny-Caffey syndrome type 1 and HRD, both mapping to 1q43-q44. [8] Genetic analysis, however, could not be done in our patient because of financial constraints.

Our patient presented with the characteristic dysmorphism of HRD, with mental retardation and neurologic manifestations of hypocalcemia, in the form of tetany and recurrent seizures. Extensive intracranial calcification is a well-recognized complication of hypoparathyroidism. [9] In addition, our patient had multifocal persistent dystonia, with onset in adolescence. The dystonia gradually resolved with calcium supplementation. Dystonia in a patient of HRD is a new neurological phenomenon, yet to be reported.

We must therefore reconsider whether HRD is still a disease exclusive to the Arab countries. Characteristic dysmorphic features with hypoparathyroidism in a child of intractable seizures could lead to early recognition of the syndrome, with correction of hypocalcemia leading to resolution of neurological manifestations to a large extent. We also reiterate that all possible differentials must always be excluded before reaching a diagnosis of cerebral palsy.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names 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

Khadilkar VV, Khadilkar AV. Revised Indian Academy of Pediatrics 2015 growth charts for height, weight and body mass index for 5-18-year-old Indian children. Indian J Endocrinol Metab 2015;19:470-6.  Back to cited text no. 1
Sanjad S, Sakati N, Abu-Osba Y. Congenital hypoparathyroidism with dysmorphic features: A new syndrome. Paediatr Res 1988;23:271-80.  Back to cited text no. 2
Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, et al. The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay - A report of six patients. Isr J Med Sci 1995;31:293-7.  Back to cited text no. 3
Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 1991;66:193-6.  Back to cited text no. 4
Naguib KK, Gouda SA, Elshafey A, Mohammed F, Bastaki L, Azab AS, et al. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: A study of 21 cases in Kuwait. East Mediterr Health J 2009;15:345-52.  Back to cited text no. 5
Kumar KJ, Kumar HC, Manjunath VG, Mamatha S. Hypoparathyroidism-retardation-dysmorphism syndrome. Indian J Hum Genet 2013;19:363-5.  Back to cited text no. 6
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Prasad R, Kumari C, Mishra OP, Singh UK. Status epilepticus in a child with Sanjad Sakati syndrome. BMJ Case Rep 2013;2013. pii: Bcr2012007794.  Back to cited text no. 7
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002;32:448-52.  Back to cited text no. 8
Harrington MG, Macpherson P, McIntosh WB, Allam BF, Bone I. The significance of the incidental finding of basal ganglia calcification on computed tomography. J Neurol Neurosurg Psychiatry 1981;44:1168-70.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3]

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