LAHORE: Perplexed by a mysterious ‘disease’ that was not even mentioned in the available medical literature world over, a board of senior medical experts on Saturday examined the three affected children from Balochistan at the Jinnah Hospital, Lahore, for diagnosis.

The 13-year-old Shoaib and his two brothers -- nine-year-old Abdul Rasheed and one-year-old Ilyas -- were brought to Lahore from a remote area of Balochistan late on Friday for investigations by medical experts. Two of their siblings have already died of the same ‘disease’.

The experts were informed that the affected children were rendered paralysed in the night and regain their strength in daylight.

The Shaheed Zulfiqar Ali Bhutto Medical University (SZABMU)/Pakistan Institute of Medical Sciences (PIMS) Islamabad had referred these children to Lahore for detailed investigation.

The medical board chaired by SZABMU/PIMS Vice-Chancellor Prof Dr Javed Akram examined them at the institute’s satellite lab situated at the Jinnah Hospital.

Lab director Prof Dr Riazuddin Sheikh, medical specialist and member of the genetic group Dr Zaman Khan, clinical geneticist Dr Mohammad Yaqoob and pediatric neurologist Dr Ziaul Rehman from the National Institute of Child Health (NICH), Lahore, and some scientists from Centre of Excellence in Molecular Biology (CEMB), Punjab University, are the board members.

“We are perplexed by this mysterious disease which has not been enlisted in the available medical literature world over”, Prof Dr Javed Akram said.

About the symptoms, he said that he had observed such patients for the first time since he joined the profession, adding that two of their male siblings had already died of the same condition.

“As the sun sets they (the children) are rendered paralysed and enter vegetative state. They are fed by the family. They can’t even walk, can’t change clothes and wait for the sunrise to regain strength to lead an active life,” Prof Akram said.

In the sunlight, he said, these children walk and run normally, take bath themselves and also play with their friends without any issue.

“We have decided to consult international experts, medical bodies and renowned medical institutes for the identification of this disease and for this purpose we are going to develop a website”, he said.

During the preliminary investigations, he said, the medical board took blood samples of these children and their father at the lab to analyse them for diagnosis.

They were examined for testing their eyesight, hearing and nerves.

“The Romberg test (neurological test) was also conducted to detect poor balance and any defect in proprioception”, the head of the medical board said.

Blood samples have also been dispatched to the CEMB for hearing and vision investigation.

The medical experts were also considering Tensilon test, an injection of edrophonium chloride used to diagnose myasthenia gravis (MG), a neuro-muscular disease that leads to fluctuating muscle weakness and fatigue.

Keeping in view the nature of the work, the board has assigned tasks to different specialists according to their relevant fields, he said.

The doctors from the NICH will examine the children for mental retardation and neurological disorders if any, while those from Satellite Lab will analyze the developmental milestone (the behavior or physical skills).

The bone marrow samples of the children’s family members present in Lahore were also drawn on Saturday for genetic analysis.

Prof Akram further said a team of experts had also been dispatched to the village these children belonged to in Balochistan for case investigations. The experts would collect air, water and soil samples from the area, besides blood samples of the patients’ normal siblings and uncles.

Prof Riazzudin said initially experts suspected that these children might have been suffering from Congenital Myasthenic Syndrome (CMS) -- a group of conditions characterised by muscle weakness (myasthenia) that worsens with physical exertion. However, he said, except a few symptoms that resembled cases of CMS, no solid evidence was found and the case got complicated.

“The board will meet on Monday (tomorrow) again to further discuss the case,” Dr Riazuddin said.

Published in Dawn, May 1st, 2016